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        "hgvsWellDefined": "XP_011515154.1:p.[Lys2048_Asp2069delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr2072_Thr2077delinsArgLeuGln]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS544317"
    },
    {
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          "referenceAllele": "A",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011515156.1:p.[Lys1679_Asp1700delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr1703_Thr1708delinsArgLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002183",
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      "proteinEffect": {
        "hgvs": "XP_016868598.1:p.Lys3021SerfsTer26",
        "hgvsWellDefined": "XP_016868598.1:p.[Lys3021_Asp3042delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr3045_Thr3050delinsArgLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566488"
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    {
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016868600.1:p.Lys2048SerfsTer26",
        "hgvsWellDefined": "XP_016868600.1:p.[Lys2048_Asp2069delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr2072_Thr2077delinsArgLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566489"
    },
    {
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      "hgvs": [
        "XM_017013112.1:c.4814del"
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      "proteinEffect": {
        "hgvs": "XP_016868601.1:p.Lys1605SerfsTer26",
        "hgvsWellDefined": "XP_016868601.1:p.[Lys1605_Asp1626delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr1629_Thr1634delinsArgLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566490"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002183",
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      "hgvs": [
        "XM_024447074.1:c.8042del"
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      "proteinEffect": {
        "hgvs": "XP_024302842.1:p.Lys2681SerfsTer26",
        "hgvsWellDefined": "XP_024302842.1:p.[Lys2681_Asp2702delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr2705_Thr2710delinsArgLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.5:c.9257del"
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      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Lys3086SerfsTer26",
        "hgvsWellDefined": "NP_060360.3:p.[Lys3086_Asp3107delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr3110_Thr3115delinsArgLeuGln]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
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        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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          "RefSeq": {
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        "protein": {
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        "hgvsWellDefined": "NP_689777.3:p.[Lys3061_Asp3082delinsSerTyrValSerSerAlaPheProProTrpTyrSerLysValTyrLysLeuPheArgLeu;Thr3085_Thr3090delinsArgLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_152564.5:c.9182del"
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        },
        "protein": {
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            "hgvs": "ENSP00000349685.2:p.Lys3061SerfsTer26"
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          "RefSeq": {
            "hgvs": "NP_689777.3:p.Lys3061SerfsTer26"
          }
        }
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    }
  ],
  "type": "nucleotide"
}