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        "hgvsWellDefined": "XP_016863227.1:p.Gln249_Gln1090delinsAlaGlyAspLeuGlyAsnGlyGluSerLeuLysLeuProAlaGlnLeuThrPheGlnSerSerSerArgAsnArgThrGlnLeuLysValLeuPheSerIleThrAlaGluGluAsnValThrValLeuProHisHisGlyLeuHisAlaAlaGlyPhePheIleAlaPheLeuLeuSerLeuValLeuThrTrpAlaAlaLeuPheLeuMetValArgTyrGlnCysLeuLysGlyAsnMetLeuThrArgHisArgValTrpGlnTyrGluSerLysLeuGluProLeuProPheThrSerAlaAspGlyValAsnGluAspLeuSerLeuAsnAspGlnMetIleAspIleLeuSerSerGluAspProGlySerMetLeuGlnAlaLeuGluGluLeuGluIleAlaThrLeuAsnArgAlaAspAlaAspLeuGluAlaCysArgThrGlnIleSerLysAspIleIleAlaLeuLeuLeuLysAsnLeuThrSerSerGlyHisLeuSerProGlnValGluArgLysMetSerAlaValPheLysLysGlnPheLeuLeuLeuGluAsnGluIleGlnGluGluTyrAspArgLysMetValAlaLeuThrAlaGluCysAspLeuGluThrArgLysLysMetGluAsnGlnTyrGlnArgGluMetMetAlaMetGluGluAlaGluGluLeuLeuLysArgAlaGlyGluArgSerAlaValGluCysSerAsnLeuLeuArgThrLeuHisGlyLeuGluGlnGluHisLeuArgLysSerLeuAlaLeuGlnGlnGluGluAspPheAlaLysAlaHisArgGlnLeuAlaValPheGlnArgAsnGluLeuHisSerIlePhePheThrGlnIleLysSerAlaIlePheLysGlyGluLeuLysProGluAlaAlaLysMetLeuLeuGlnAsnTyrSerLysIleGlnGluAsnValGluGluLeuMetAspPhePheGlnAlaSerLysArgTyrHisLeuSerLysArgPheGlyHisArgGluTyrLeuValGlnAsnLeuGlnSerSerGluThrArgValGlnGlyLeuLeuSerThrAlaAlaAlaGlnLeuThrHisLeuIleGlnLysHisGluArgAlaGlyTyrLeuAspGluAspGlnMetGluMetLeuLeuGluArgAlaGlnThrGluValPheSerIleLysGlnLysLeuAspAsnAspLeuLysGlnGluLysLysLysLeuHisGlnLysLeuIleThrLysArgArgArgGluLeuLeuGlnLysHisArgGluGlnArgArgGluGlnAlaSerValGlyGluAlaPheArgThrValGluAspAlaGlyGlnTyrLeuHisGlnLysArgSerLeuMetGluGluHisGlyAlaThrLeuGluGluLeuGlnGluArgLeuAspGlnAlaAlaLeuAspAspLeuArgThrLeuThrLeuSerLeuPheGluLysAlaThrAspGluLeuArgArgLeuGlnAsnSerAlaMetThrGlnGluLeuLeuLysArgGlyValProTrpLeuPheLeuGlnGlnIleLeuGluGluHisGlyLysGluMetAlaAlaArgAlaGluGlnLeuGluGlyGluGluArgAspArgAspGlnGluGlyValGlnSerValArgGlnArgLeuLysAspAspAlaProGluAlaValThrGluGluGlnAlaGluLeuArgArgTrpGluHisLeuIlePheMetLysLeuCysSerSerValPheSerLeuSerGluGluGluLeuLeuArgMetArgGlnGluValHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGlnGlnPheGlnThrAlaTrpArgGluAlaGluPheValLysLeuAspGlnAlaValAlaAlaProGluLeuGlnGlnGlnSerLysValArgLysSerArgSerLysSerLysSerLysGlyGluLeuLeuLysLysCysIleGluAspLysIleHisLeuCysGluGluGlnAlaSerGluAspLeuValGluLysValArgGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_017007739.1:c.-928C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863228.1:n.-928C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XM_024453893.1:c.-1032C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309661.1:n.-1032C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "XR_001741141.1:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_147127.5:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_667338.3:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344408.10:c.745C>T"
          },
          "RefSeq": {
            "hgvs": "NM_147127.5:c.745C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342144.5:p.Gln249Ter"
          },
          "RefSeq": {
            "hgvs": "NP_667338.3:p.Gln249Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NM_001166136.2:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159608.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713172"
    }
  ],
  "type": "nucleotide"
}