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      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000634944.1:c.626C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488972.1:p.Ser209Ter",
        "hgvsWellDefined": "ENSP00000488972.1:p.Ser209_Phe360delinsAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635003.1:c.425C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489080.1:p.Ser142Ter",
        "hgvsWellDefined": "ENSP00000489080.1:p.Ser142_Phe293delinsAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635344.1:c.*277C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489553.1:n.*277C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "ENST00000635666.1:c.554C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489128.1:p.Ser185Ter",
        "hgvsWellDefined": "ENSP00000489128.1:p.Ser185_Leu277del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344959",
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.1:c.626C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Ser209Ter",
        "hgvsWellDefined": "NP_001025067.1:p.Ser209_Phe360delinsAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741936551",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.3:c.629C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Ser210Ter",
        "hgvsWellDefined": "NP_009006.2:p.Ser210_Phe361delinsAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344959",
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_001029896.2:c.626C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025067.1:p.Ser209Ter",
        "hgvsWellDefined": "NP_001025067.1:p.Ser209_Phe360delinsAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376372.9:c.626C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001029896.2:c.626C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365551.3:p.Ser209Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001025067.1:p.Ser209Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741936551",
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028912",
      "geneNCBI_id": 11152,
      "geneSymbol": "WDR45",
      "hgvs": [
        "NM_007075.4:c.629C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009006.2:p.Ser210Ter",
        "hgvsWellDefined": "NP_009006.2:p.Ser210_Phe361delinsAlaSerGlnLysGlyThrLeuIleArgLeuPheAspThrGlnSerLysGluLysLeuValGluLeuArgArgGlyThrAspProAlaThrLeuTyrCysIleAsnPheSerHisAspSerSerPheLeuCysAlaSerSerAspLysGlyThrValHisIlePheAlaLeuLysAspThrArgLeuAsnArgArgSerAlaLeuAlaArgValGlyLysValGlyProMetIleGlyGlnTyrValAspSerGlnTrpSerLeuAlaSerPheThrValProAlaGluSerAlaCysIleCysAlaPheGlyArgAsnThrSerLysAsnValAsnSerValIleAlaIleCysValAspGlyThrPheHisLysTyrValPheThrProAspGlyAsnCysAsnArgGluAlaPheAspValTyrLeuAspIleCysAspAspAspAspPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727799"
    }
  ],
  "type": "nucleotide"
}