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        "hgvsWellDefined": "XP_011515155.1:p.Gln2244_Met2725delinsValPheTrpGlyGlnGluHisLeuAsnCysLeuValLeuLeuHisGluLeuLeuAsnGlyTyrLeuAsnGluGluGlyAsnPheGluValGlnValSerGluProValProGlnMetSerSerProValGluLysAsnGlnThrPheLysSerGluGlnSerSerAspAspLeuArgThrGlyLeuPheGlnTyrValGlnAspAlaGluSerLeuLysLeuProGlyValTyrGluValLeuPheTyrAsnGluThrGluAspCysProGlyMetMetLeuTrpArgTyrProGluProArgValLeuThrLeuValArgIleThrProValProPheAsnThrThrGluAspProAspIleSerThrAlaAspLeuGlyAspValLeuGlnValProCysSerLeuGluTyrTrpAspGluLeuGlnLysValPheValAlaPheArgGluPheAsnLeuSerGluSerLysValCysGluLeuGlnLeuProAspIleAsnLeuValAsnAspGlnLysLysLeuValSerSerAspLeuTrpArgIleValLeuAsnSerSerGlnAsnGlyAlaAspAspGlnSerSerAlaSerGluSerGlySerGlnSerThrCysAspProLeuValThrProThrAlaLeuAlaAlaCysThrArgValAspSerCysPheThrProTrpPheValProSerLeuCysValSerPheGlnPheAlaHisLeuGluPheHisLeuCysHisHisLeuAspGlnLeuGlyThrAlaAlaProGlnTyrLeuGlnProPheValSerAspArgAsnMetProSerGluLeuGluTyrMetIleValSerPheArgGluProHisMetTyrLeuArgGlnTrpAsnAsnGlySerValCysGlnGluIleGlnPheLeuAlaGlnAlaAspCysLysLeuLeuGluCysArgAsnValThrMetGlnSerValValLysProPheSerIlePheGlyGlnMetAlaValSerSerAspValValGluLysLeuLeuAspCysThrValIleValAspSerValPheValAsnLeuGlyGlnHisValValHisSerLeuAsnThrAlaIleGlnAlaTrpGlnGlnAsnLysCysProGluValGluGluLeuValPheSerHisPheValIleCysAsnAspThrGlnGluThrLeuArgPheGlyGlnValAspThrAspGluAsnIleLeuLeuAlaSerLeuHisSerHisGlnTyrSerTrpArgSerHisLysSerProGlnLeuLeuHisIleCysIleGluGlyTrpGlyAsnTrpArgTrpSerGluProPheSerValAspHisAlaGlyThrPheIleArgThrIleGlnTyrArgGlyArgThrAlaSerLeuIleIleLysValGlnGlnLeuAsnGlyValGlnLysGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544318"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.2:c.2509C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:p.Gln837Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
    },
    {
      "coordinates": [
        {
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          "end": 6638,
          "referenceAllele": "C",
          "start": 6637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013109.1:c.6535C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868598.1:p.Gln2179Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4003,
          "referenceAllele": "C",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016868600.1:p.Gln1206Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS566489"
    },
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          "end": 3145,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013112.1:c.2287C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868601.1:p.Gln763Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS566490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6912,
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_024447074.1:c.5515C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302842.1:p.Gln1839Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
    {
      "coordinates": [
        {
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          "end": 6833,
          "referenceAllele": "C",
          "start": 6832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
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      "geneSymbol": "VPS13B",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln2244Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.6730C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.6730C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:p.Gln2244Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:p.Gln2244Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
          "start": 6757
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Gln2219Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Gln2219Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Gln2219Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}