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        "hgvsWellDefined": "XP_016866434.1:p.[Val3521_Glu3526delinsAlaTyrLysGluArgSer;Ile3528_Gly3533delinsLeuLysTyrAlaGln;Ser3535_Leu3540delinsPheProPhe;Val3542_Val3544delinsTrpPro;Val3546del;Glu3548_Gly3550del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "T",
          "start": 10683
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
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        "XM_017010946.2:c.10442del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Val3481AlafsTer22",
        "hgvsWellDefined": "XP_016866435.1:p.[Val3481_Glu3486delinsAlaTyrLysGluArgSer;Ile3488_Gly3493delinsLeuLysTyrAlaGln;Ser3495_Leu3500delinsPheProPhe;Val3502_Val3504delinsTrpPro;Val3506del;Glu3508_Gly3510del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "T",
          "start": 10614
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      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.10373del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Val3458AlafsTer22",
        "hgvsWellDefined": "XP_016866436.1:p.[Val3458_Glu3463delinsAlaTyrLysGluArgSer;Ile3465_Gly3470delinsLeuLysTyrAlaGln;Ser3472_Leu3477delinsPheProPhe;Val3479_Val3481delinsTrpPro;Val3483del;Glu3485_Gly3487del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "T",
          "start": 10696
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Val3309AlafsTer22",
        "hgvsWellDefined": "XP_016866437.1:p.[Val3309_Glu3314delinsAlaTyrLysGluArgSer;Ile3316_Gly3321delinsLeuLysTyrAlaGln;Ser3323_Leu3328delinsPheProPhe;Val3330_Val3332delinsTrpPro;Val3334del;Glu3336_Gly3338del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "T",
          "start": 9875
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.8777del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Val2926AlafsTer22",
        "hgvsWellDefined": "XP_016866438.1:p.[Val2926_Glu2931delinsAlaTyrLysGluArgSer;Ile2933_Gly2938delinsLeuLysTyrAlaGln;Ser2940_Leu2945delinsPheProPhe;Val2947_Val2949delinsTrpPro;Val2951del;Glu2953_Gly2955del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 10913,
          "referenceAllele": "T",
          "start": 10912
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.10913del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3145,
          "endIntronDirection": "+",
          "endIntronOffset": 7116,
          "referenceAllele": "A",
          "start": 3145,
          "startIntronDirection": "+",
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        }
      ],
      "hgvs": [
        "XR_001744157.1:n.3145+7116del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593061"
    },
    {
      "coordinates": [
        {
          "allele": "",
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        }
      ],
      "hgvs": [
        "XR_926870.2:n.3145+7116del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608366"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "endIntronDirection": "+",
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          "referenceAllele": "A",
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      ],
      "hgvs": [
        "XR_926871.2:n.3013+7116del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS608367"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "endIntronDirection": "+",
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        "XR_926872.2:n.3145+7116del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS608368"
    },
    {
      "coordinates": [
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          "allele": "",
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.10637del"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Val3546AlafsTer22",
        "hgvsWellDefined": "NP_619639.3:p.[Val3546_Glu3551delinsAlaTyrLysGluArgSer;Ile3553_Gly3558delinsLeuLysTyrAlaGln;Ser3560_Leu3565delinsPheProPhe;Val3567_Val3569delinsTrpPro;Val3571del;Glu3573_Gly3575del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.10637del"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.10637del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Val3546AlafsTer22"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Val3546AlafsTer22"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}