{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372764572",
  "communityStandardTitle": [
    "NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514595[alleleid]",
        "alleleId": 514595,
        "preferredName": "NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523786",
        "RCV": [
          "RCV000627240",
          "RCV003596077"
        ],
        "variationId": 523786
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.422056C>T?assembly=hg19",
        "id": "chr9:g.422056C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.422056C>T?assembly=hg38",
        "id": "chr9:g.422056C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1476130680",
        "rs": 1476130680
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-422056-C-T?dataset=gnomad_r2_1",
        "id": "9-422056-C-T",
        "variant": "9:422056 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-422056-C-T?dataset=gnomad_r4",
        "id": "9-422056-C-T",
        "variant": "9:422056 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 422056,
          "referenceAllele": "C",
          "start": 422055
        }
      ],
      "hgvs": [
        "NC_000009.12:g.422056C>T",
        "CM000671.2:g.422056C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 422056,
          "referenceAllele": "C",
          "start": 422055
        }
      ],
      "hgvs": [
        "NC_000009.11:g.422056C>T",
        "CM000671.1:g.422056C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 412056,
          "referenceAllele": "C",
          "start": 412055
        }
      ],
      "hgvs": [
        "NC_000009.10:g.412056C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212192,
          "referenceAllele": "C",
          "start": 212191
        }
      ],
      "hgvs": [
        "NG_017007.1:g.212192C>T",
        "LRG_196:g.212192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003365"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4259,
          "referenceAllele": "C",
          "start": 4258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.2:c.3862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.2:p.Arg1288Ter",
        "hgvsWellDefined": "ENSP00000371766.2:p.Arg1288_Phe1936delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgSerThrAlaSerSerAlaThrThrGlyGlnArgProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000683406.1:n.683C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000685949.1:n.2950C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4274,
          "referenceAllele": "C",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.7:c.4162C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:p.Arg1388Ter",
        "hgvsWellDefined": "ENSP00000394888.3:p.Arg1388_Ser2099delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.4162C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.4162C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Arg1388Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Arg1388Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.1:c.2563C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.1:p.Arg855Ter",
        "hgvsWellDefined": "ENSP00000371766.1:p.Arg855_Ser1566delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4274,
          "referenceAllele": "C",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.6:c.4162C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:p.Arg1388Ter",
        "hgvsWellDefined": "ENSP00000394888.3:p.Arg1388_Ser2099delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4059,
          "referenceAllele": "C",
          "start": 4058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000453981.5:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408464.2:p.Arg1320Ter",
        "hgvsWellDefined": "ENSP00000408464.2:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3941,
          "referenceAllele": "C",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000469391.5:c.3862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419438.1:p.Arg1288Ter",
        "hgvsWellDefined": "ENSP00000419438.1:p.Arg1288_Ser1999delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000493666.2:n.387C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6117,
          "referenceAllele": "C",
          "start": 6116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000495184.5:n.6117C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160403",
      "coordinates": [
        {
          "allele": "T",
          "end": 3963,
          "referenceAllele": "C",
          "start": 3962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.1:c.3862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Arg1288Ter",
        "hgvsWellDefined": "NP_001177387.1:p.Arg1288_Ser1999delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826189914",
      "coordinates": [
        {
          "allele": "T",
          "end": 4059,
          "referenceAllele": "C",
          "start": 4058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.1:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Arg1320Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812815",
      "coordinates": [
        {
          "allele": "T",
          "end": 4274,
          "referenceAllele": "C",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.3:c.4162C>T",
        "LRG_196t1:c.4162C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Arg1388Ter",
        "hgvsWellDefined": "NP_982272.2:p.Arg1388_Ser2099delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4013,
          "referenceAllele": "C",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.1:c.3862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:p.Arg1288Ter",
        "hgvsWellDefined": "XP_011516347.1:p.Arg1288_Ser1999delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4172,
          "referenceAllele": "C",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.1:c.4024C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:p.Arg1342Ter",
        "hgvsWellDefined": "XP_011516348.1:p.Arg1342_Ser2053delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4416,
          "referenceAllele": "C",
          "start": 4415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.1:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:p.Arg1320Ter",
        "hgvsWellDefined": "XP_011516349.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4099,
          "referenceAllele": "C",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.1:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Arg1320Ter",
        "hgvsWellDefined": "XP_011516350.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.1:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:p.Arg800Ter",
        "hgvsWellDefined": "XP_011516351.1:p.Arg800_Ser1511delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4034,
          "referenceAllele": "C",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.3:c.3862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:p.Arg1288Ter",
        "hgvsWellDefined": "XP_011516347.1:p.Arg1288_Ser1999delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4172,
          "referenceAllele": "C",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.2:c.4024C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:p.Arg1342Ter",
        "hgvsWellDefined": "XP_011516348.1:p.Arg1342_Ser2053delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4223,
          "referenceAllele": "C",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.3:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:p.Arg1320Ter",
        "hgvsWellDefined": "XP_011516349.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4094,
          "referenceAllele": "C",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.2:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Arg1320Ter",
        "hgvsWellDefined": "XP_011516350.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518049.2:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516351.1:p.Arg800Ter",
        "hgvsWellDefined": "XP_011516351.1:p.Arg800_Ser1511delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4129,
          "referenceAllele": "C",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015173.1:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870662.1:p.Arg1320Ter",
        "hgvsWellDefined": "XP_016870662.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4209,
          "referenceAllele": "C",
          "start": 4208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015174.1:c.4024C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870663.1:p.Arg1342Ter",
        "hgvsWellDefined": "XP_016870663.1:p.Arg1342_Ser2053delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826160403",
      "coordinates": [
        {
          "allele": "T",
          "end": 3965,
          "referenceAllele": "C",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.2:c.3862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Arg1288Ter",
        "hgvsWellDefined": "NP_001177387.1:p.Arg1288_Ser1999delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826189914",
      "coordinates": [
        {
          "allele": "T",
          "end": 4061,
          "referenceAllele": "C",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Arg1320Ter",
        "hgvsWellDefined": "NP_001180465.1:p.Arg1320_Ser2031delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812815",
      "coordinates": [
        {
          "allele": "T",
          "end": 4274,
          "referenceAllele": "C",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.4162C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Arg1388Ter",
        "hgvsWellDefined": "NP_982272.2:p.Arg1388_Ser2099delinsPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.4162C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.4162C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Arg1388Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Arg1388Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}