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        "hgvsWellDefined": "XP_011538353.1:p.Gln1823_Val2306delinsProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaGlyThrProLeuThrValLeuAsnGlyProIleLeuAlaLeuAspAlaAspGlnAspIleTyrAlaValValThrTyrGlnLeuLeuGlyAlaGlnSerGlyLeuPheAspIleAsnSerSerThrGlyValValThrValArgSerGlyValIleIleAspArgGluAlaPheSerProProIleLeuGluLeuLeuLeuLeuAlaGluAspIleGlyLeuLeuAsnSerThrAlaHisLeuLeuIleThrIleLeuAspAspAsnAspAsnArgProThrPheSerProAlaThrLeuThrValHisLeuLeuGluAsnCysProProGlyPheSerValLeuGlnValThrAlaThrAspGluAspSerGlyLeuAsnGlyGluLeuValTyrArgIleGluAlaGlyAlaGlnAspArgPheLeuIleHisLeuValThrGlyValIleArgValGlyAsnAlaThrIleAspArgGluGluGlnGluSerTyrArgLeuThrValValAlaThrAspArgGlyThrValProLeuSerGlyThrAlaIleValThrIleLeuIleAspAspIleAsnAspSerArgProGluPheLeuAsnProIleGlnThrValSerValLeuGluSerAlaGluProGlyThrValIleAlaAsnIleThrAlaIleAspHisAspLeuAsnProLysLeuGluTyrHisIleValGlyIleValAlaLysAspAspThrAspArgLeuValProAsnGlnGluAspAlaPheAlaValAsnIleAsnThrGlyProGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540052.1:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538354.1:p.Gln599Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5710,
          "referenceAllele": "C",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.5467C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Gln1823Ter",
        "hgvsWellDefined": "XP_011538355.1:p.Gln1823_Leu2042delinsProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaAlaGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5710,
          "referenceAllele": "C",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.5710C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5676,
          "referenceAllele": "C",
          "start": 5675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.5272C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Gln1758Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.5272C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.5272C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Gln1758Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Gln1758Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}