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      "proteinEffect": {
        "hgvs": "XP_011511737.1:p.Lys153Ter",
        "hgvsWellDefined": "XP_011511737.1:p.Lys153_Arg636delinsLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgCysGlyTyrTrpAlaGlyValPhePheLeuSerSerAlaGluGlyGluGlnIleSerPheLeuPheAspCysIleValArgGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.2:c.54A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:p.Gly18="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139765795",
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.5:c.457A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:p.Lys153Ter",
        "hgvsWellDefined": "NP_775931.3:p.Lys153_Pro504delinsLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgCysGlyTyrTrpAlaGlyValPhePheLeuSerSerAlaGluGlyGluGlnIleSerPheLeuPheAspCysIleValArgGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672701",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.457A>T"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.457A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Lys153Ter"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Lys153Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999403",
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.2:c.457A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:p.Lys153Ter",
        "hgvsWellDefined": "NP_001158145.1:p.Lys153_Gly255delinsLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgGlyTrpArgLeuLeuProValLeuGlyArgGlyGlyAlaAspGlnLeuProValArgLeuHisArgProArgHisLeuProHisGlnGlyProLeuTrpAlaAlaAlaGlySerThrArgProLysSerProGlyThrLeuAspCysGlyGlyAlaCysGlyProGlySerProGlyAsnProThrAlaGlyGluAlaAlaGluProProLeuThrCysGlyGlnAlaGlyGlnTrpArgGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826862006",
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.2:c.457A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Lys153Ter",
        "hgvsWellDefined": "NP_001288000.1:p.Lys153_Gln608delinsLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgCysGlyTyrTrpAlaGlyValPhePheLeuSerSerAlaGluGlyGluGlnIleSerPheLeuPheAspCysIleValArgGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "endIntronDirection": "-",
          "endIntronOffset": 9071,
          "referenceAllele": "A",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 9072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.101-9072A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.101-9072A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    }
  ],
  "type": "nucleotide"
}