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        "hgvsWellDefined": "XP_011522205.1:p.[Lys72_Arg78delinsAsnGlyHisLeuLeu;Gln80_Lys81delinsAspTyr;Val83_Glu85delinsArgArg;Glu87_Leu90delinsTrp;Glu92_Pro102del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091036"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN008574",
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      "geneSymbol": "PAFAH1B1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011522206.1:p.Lys72AsnfsTer15",
        "hgvsWellDefined": "XP_011522206.1:p.[Lys72_Arg78delinsAsnGlyHisLeuLeu;Gln80_Lys81delinsAspTyr;Val83_Glu85delinsArgArg;Glu87_Leu90delinsTrp;Glu92_Pro102del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091037"
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    {
      "coordinates": [
        {
          "allele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN008574",
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      "hgvs": [
        "XM_011523901.2:c.216del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522203.1:p.Lys72AsnfsTer15",
        "hgvsWellDefined": "XP_011522203.1:p.[Lys72_Arg78delinsAsnGlyHisLeuLeu;Gln80_Lys81delinsAspTyr;Val83_Glu85delinsArgArg;Glu87_Leu90delinsTrp;Glu92_Pro102del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547235"
    },
    {
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN008574",
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      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523902.3:c.216del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522204.1:p.Lys72AsnfsTer15",
        "hgvsWellDefined": "XP_011522204.1:p.[Lys72_Arg78delinsAsnGlyHisLeuLeu;Gln80_Lys81delinsAspTyr;Val83_Glu85delinsArgArg;Glu87_Leu90delinsTrp;Glu92_Pro102del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547236"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_011523903.2:c.216del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522205.1:p.Lys72AsnfsTer15",
        "hgvsWellDefined": "XP_011522205.1:p.[Lys72_Arg78delinsAsnGlyHisLeuLeu;Gln80_Lys81delinsAspTyr;Val83_Glu85delinsArgArg;Glu87_Leu90delinsTrp;Glu92_Pro102del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547237"
    },
    {
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_017024701.1:c.162del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880190.1:p.Lys54AsnfsTer15",
        "hgvsWellDefined": "XP_016880190.1:p.[Lys54_Arg60delinsAsnGlyHisLeuLeu;Gln62_Lys63delinsAspTyr;Val65_Glu67delinsArgArg;Glu69_Leu72delinsTrp;Glu74_Pro84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575202"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN008574",
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      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "XM_017024702.2:c.-34del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880191.1:n.-34del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575203"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN008574",
      "geneNCBI_id": 5048,
      "geneSymbol": "PAFAH1B1",
      "hgvs": [
        "NM_000430.4:c.162del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000421.1:p.Lys54AsnfsTer15",
        "hgvsWellDefined": "NP_000421.1:p.[Lys54_Arg60delinsAsnGlyHisLeuLeu;Gln62_Lys63delinsAspTyr;Val65_Glu67delinsArgArg;Glu69_Leu72delinsTrp;Glu74_Pro84del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397195.10:c.162del"
          },
          "RefSeq": {
            "hgvs": "NM_000430.4:c.162del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380378.4:p.Lys54AsnfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_000421.1:p.Lys54AsnfsTer15"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}