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        "hgvsWellDefined": "XP_011515155.1:p.Gln2132_Met2725delinsLysIleSerValGlnThrThrGlnIleValIleSerMetGluThrValProHisThrSerLysProCysLeuLeuAlaSerLeuSerAsnLeuAsnGlySerLeuSerValLysAlaThrGlnLysValProGlyIleIleLeuGlySerSerPheLeuLeuSerIleAsnAspPheLeuLeuLysThrSerLeuLysGluArgSerArgIleLeuIleGlyProCysCysAlaThrAlaAsnLeuGluAlaLysTrpCysLysHisSerGlyAsnProGlyProGluGlnSerIleProLysIleSerIleAspLeuArgGlyGlyLeuLeuGlnValPheTrpGlyGlnGluHisLeuAsnCysLeuValLeuLeuHisGluLeuLeuAsnGlyTyrLeuAsnGluGluGlyAsnPheGluValGlnValSerGluProValProGlnMetSerSerProValGluLysAsnGlnThrPheLysSerGluGlnSerSerAspAspLeuArgThrGlyLeuPheGlnTyrValGlnAspAlaGluSerLeuLysLeuProGlyValTyrGluValLeuPheTyrAsnGluThrGluAspCysProGlyMetMetLeuTrpArgTyrProGluProArgValLeuThrLeuValArgIleThrProValProPheAsnThrThrGluAspProAspIleSerThrAlaAspLeuGlyAspValLeuGlnValProCysSerLeuGluTyrTrpAspGluLeuGlnLysValPheValAlaPheArgGluPheAsnLeuSerGluSerLysValCysGluLeuGlnLeuProAspIleAsnLeuValAsnAspGlnLysLysLeuValSerSerAspLeuTrpArgIleValLeuAsnSerSerGlnAsnGlyAlaAspAspGlnSerSerAlaSerGluSerGlySerGlnSerThrCysAspProLeuValThrProThrAlaLeuAlaAlaCysThrArgValAspSerCysPheThrProTrpPheValProSerLeuCysValSerPheGlnPheAlaHisLeuGluPheHisLeuCysHisHisLeuAspGlnLeuGlyThrAlaAlaProGlnTyrLeuGlnProPheValSerAspArgAsnMetProSerGluLeuGluTyrMetIleValSerPheArgGluProHisMetTyrLeuArgGlnTrpAsnAsnGlySerValCysGlnGluIleGlnPheLeuAlaGlnAlaAspCysLysLeuLeuGluCysArgAsnValThrMetGlnSerValValLysProPheSerIlePheGlyGlnMetAlaValSerSerAspValValGluLysLeuLeuAspCysThrValIleValAspSerValPheValAsnLeuGlyGlnHisValValHisSerLeuAsnThrAlaIleGlnAlaTrpGlnGlnAsnLysCysProGluValGluGluLeuValPheSerHisPheValIleCysAsnAspThrGlnGluThrLeuArgPheGlyGlnValAspThrAspGluAsnIleLeuLeuAlaSerLeuHisSerHisGlnTyrSerTrpArgSerHisLysSerProGlnLeuLeuHisIleCysIleGluGlyTrpGlyAsnTrpArgTrpSerGluProPheSerValAspHisAlaGlyThrPheIleArgThrIleGlnTyrArgGlyArgThrAlaSerLeuIleIleLysValGlnGlnLeuAsnGlyValGlnLysGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544318"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2593,
          "referenceAllele": "C",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.2:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:p.Gln725Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
    },
    {
      "coordinates": [
        {
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          "end": 6302,
          "referenceAllele": "C",
          "start": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013109.1:c.6199C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868598.1:p.Gln2067Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
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      "geneSymbol": "VPS13B",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016868600.1:p.Gln1094Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2809,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013112.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868601.1:p.Gln651Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566490"
    },
    {
      "coordinates": [
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          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_024302842.1:p.Gln1727Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
    {
      "coordinates": [
        {
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          "end": 6497,
          "referenceAllele": "C",
          "start": 6496
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln2132Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.6394C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.6394C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:p.Gln2132Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:p.Gln2132Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6422,
          "referenceAllele": "C",
          "start": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.5:c.6319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Gln2107Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.6319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Gln2107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Gln2107Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}