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            "hgvs": "NM_000070.3:c.1795del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380349.3:p.Thr599ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000061.1:p.Thr599ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2087,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "A",
          "start": 2087,
          "startIntronDirection": "+",
          "startIntronOffset": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_024344.2:c.1782+2161del"
      ],
      "proteinEffect": {
        "hgvs": "NP_077320.1:n.1782+2161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1943,
          "endIntronDirection": "+",
          "endIntronOffset": 2161,
          "referenceAllele": "A",
          "start": 1943,
          "startIntronDirection": "+",
          "startIntronOffset": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173087.2:c.1638+2161del"
      ],
      "proteinEffect": {
        "hgvs": "NP_775110.1:n.1638+2161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729559"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173088.2:c.259del"
      ],
      "proteinEffect": {
        "hgvs": "NP_775111.1:p.Thr87ProfsTer?",
        "hgvsWellDefined": "NP_775111.1:p.[Thr87_Lys88delinsProSer;Ile90_Val93delinsSerSer;Asp95Phe;Ala97_Gly104delinsThrGluGlnThrAlaThrArgSerTrp;Asp106_Glu108delinsTrpThrArg;Glu110_Gly112delinsGlnArgArgAla;Gly114Ala;Thr116Gln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 983,
          "referenceAllele": "A",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173089.2:c.-82+983del"
      ],
      "proteinEffect": {
        "hgvs": "NP_775112.1:n.-82+983del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729561"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 205,
          "referenceAllele": "A",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001480",
      "geneNCBI_id": 825,
      "geneSymbol": "CAPN3",
      "hgvs": [
        "NM_173090.2:c.-87del"
      ],
      "proteinEffect": {
        "hgvs": "NP_775113.1:n.-87del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729562"
    }
  ],
  "type": "nucleotide"
}