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      "hgvs": [
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        "hgvsWellDefined": "NP_001369584.2:p.[Ile459_Leu462delinsSerThrThrCysValSer;Glu464_Pro467delinsCysArgAlaCys;Leu469_Gln470delinsPro;Arg472_Tyr474delinsThrThrPro;Ile476_His483delinsProHisProProArgSerThr;Asn485_His488delinsThrLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782017"
    },
    {
      "coordinates": [
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          "allele": "",
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001369586.2:p.[Ile441_Leu444delinsSerThrThrCysValSer;Glu446_Pro449delinsCysArgAlaCys;Leu451_Gln452delinsPro;Arg454_Tyr456delinsThrThrPro;Ile458_His465delinsProHisProProArgSerThr;Asn467_His470delinsThrLeuCys]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS782018"
    },
    {
      "coordinates": [
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          "allele": "",
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001369587.2:p.[Ile441_Leu444delinsSerThrThrCysValSer;Glu446_Pro449delinsCysArgAlaCys;Leu451_Gln452delinsPro;Arg454_Tyr456delinsThrThrPro;Ile458_His465delinsProHisProProArgSerThr;Asn467_His470delinsThrLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782019"
    },
    {
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "C",
          "start": 1391
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      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382659.3:c.1320del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369588.2:p.Ile441SerfsTer?",
        "hgvsWellDefined": "NP_001369588.2:p.[Ile441_Leu444delinsSerThrThrCysValSer;Glu446_Pro449delinsCysArgAlaCys;Leu451_Gln452delinsPro;Arg454_Tyr456delinsThrThrPro;Ile458_His465delinsProHisProProArgSerThr;Asn467_His470delinsThrLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1764,
          "endIntronDirection": "+",
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          "start": 1764,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
        "NM_001382662.3:c.1239+180del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369591.2:n.1239+180del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782021"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN009208",
      "geneNCBI_id": 5447,
      "geneSymbol": "POR",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001382342.1:p.Ile441SerfsTer?",
        "hgvsWellDefined": "NP_001382342.1:p.[Ile441_Leu444delinsSerThrThrCysValSer;Glu446_Pro449delinsCysArgAlaCys;Leu451_Gln452delinsPro;Arg454_Tyr456delinsThrThrPro;Ile458_His465delinsProHisProProArgSerThr;Asn467_His470delinsThrLeuCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENSP00000419970.2:p.Ile441SerfsTer?"
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          "RefSeq": {
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        }
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    }
  ],
  "type": "nucleotide"
}