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        "hgvsWellDefined": "XP_016866594.1:p.Gln2165_Leu2306delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6439,
          "referenceAllele": "C",
          "start": 6438
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      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011106.2:c.6364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866595.1:p.Gln2122Ter",
        "hgvsWellDefined": "XP_016866595.1:p.Gln2122_Leu2263delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6419,
          "referenceAllele": "C",
          "start": 6418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011107.2:c.6343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866596.1:p.Gln2115Ter",
        "hgvsWellDefined": "XP_016866596.1:p.Gln2115_Leu2256delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6638,
          "referenceAllele": "C",
          "start": 6637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XR_002956289.1:n.6638C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828106301",
      "coordinates": [
        {
          "allele": "T",
          "end": 4581,
          "referenceAllele": "C",
          "start": 4580
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      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.2:c.4192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:p.Gln1398Ter",
        "hgvsWellDefined": "NP_001350654.1:p.Gln1398_Leu1539delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828449325",
      "coordinates": [
        {
          "allele": "T",
          "end": 7491,
          "referenceAllele": "C",
          "start": 7490
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      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001371656.1:c.6571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358585.1:p.Gln2191Ter",
        "hgvsWellDefined": "NP_001358585.1:p.Gln2191_Leu2332delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828554045",
      "coordinates": [
        {
          "allele": "T",
          "end": 6874,
          "referenceAllele": "C",
          "start": 6873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374820.1:c.6571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361749.1:p.Gln2191Ter",
        "hgvsWellDefined": "NP_001361749.1:p.Gln2191_Leu2332delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573073382",
      "coordinates": [
        {
          "allele": "T",
          "end": 6994,
          "referenceAllele": "C",
          "start": 6993
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      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374828.1:c.6691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361757.1:p.Gln2231Ter",
        "hgvsWellDefined": "NP_001361757.1:p.Gln2231_Leu2372delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.6691C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.6691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.Gln2231Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.Gln2231Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829869624",
      "coordinates": [
        {
          "allele": "T",
          "end": 6835,
          "referenceAllele": "C",
          "start": 6834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.3:c.6532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.3:p.Gln2178Ter",
        "hgvsWellDefined": "NP_059989.3:p.Gln2178_Leu2319delinsGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697814"
    }
  ],
  "type": "nucleotide"
}