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      "proteinEffect": {
        "hgvs": "XP_016858784.1:p.Glu539Ter",
        "hgvsWellDefined": "XP_016858784.1:p.Glu539_Leu1119delinsLysGlyGluThrLeuGlnProGluGlyGlnValGlyValProGlyAspProGlyLeuArgGlyGlnProGlyArgLysGlyLeuAspGlyIleProGlyThrProGlyValLysGlyLeuProGlyProLysGlyGluLeuAlaLeuSerGlyGluLysGlyAspGlnGlyProProGlyAspProGlySerProGlySerProGlyProAlaGlyProAlaGlyProProGlyTyrGlyProGlnGlyGluProGlyLeuGlnGlyThrGlnGlyValProGlyAlaProGlyProProGlyGluAlaGlyProArgGlyGluLeuSerValSerThrProValProGlyProProGlyProProGlyProProGlyHisProGlyProGlnGlyProProGlyIleProGlySerLeuGlyLysCysGlyAspProGlyLeuProGlyProAspGlyGluProGlyIleProGlyIleGlyPheProGlyProProGlyProLysGlyAspGlnGlyPheProGlyThrLysGlySerLeuGlyCysProGlyLysMetGlyGluProGlyLeuProGlyLysProGlyLeuProGlyAlaLysGlyGluProAlaValAlaMetProGlyGlyProGlyThrProGlyPheProGlyGluArgGlyAsnSerGlyGluHisGlyGluIleGlyLeuProGlyLeuProGlyLeuProGlyThrProGlyAsnGluGlyLeuAspGlyProArgGlyAspProGlyGlnProGlyProProGlyGluGlnGlyProProGlyArgCysIleGluGlyProArgGlyAlaGlnGlyLeuProGlyLeuAsnGlyLeuLysGlyGlnGlnGlyArgArgGlyLysThrGlyProLysGlyAspProGlyIleProGlyLeuAspArgSerGlyPheProGlyGluThrGlySerProGlyIleProGlyHisGlnGlyGluMetGlyProLeuGlyGlnArgGlyTyrProGlyAsnProGlyIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProValProAlaAlaProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "G",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_001738601.1:n.1753G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "G",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.1753G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.1615G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Glu539Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.1615G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.1615G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Glu539Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Glu539Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}