{
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  "@id": "http://reg.genome.network/allele/CA143738",
  "communityStandardTitle": [
    "NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1349142",
        "active": true,
        "id": "COSM1349142"
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        "preferredName": "NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50357",
        "RCV": [
          "RCV000043512",
          "RCV000128660",
          "RCV001380964"
        ],
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      }
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        "@id": "http://myvariant.info/v1/variant/chr10:g.76789971C>T?assembly=hg19",
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        "@id": "http://myvariant.info/v1/variant/chr10:g.75030213C>T?assembly=hg38",
        "id": "chr10:g.75030213C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/199470484",
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      "referenceSequence": "http://reg.genome.network/refseq/RS253425"
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        "hgvsWellDefined": "ENSP00000361796.1:p.Arg1614_Arg1890delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4915,
          "referenceAllele": "C",
          "start": 4914
        }
      ],
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      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372714.5:c.4513C>T"
      ],
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        "hgvs": "ENSP00000361799.1:p.Arg1505Ter",
        "hgvsWellDefined": "ENSP00000361799.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269265"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 5027,
          "referenceAllele": "C",
          "start": 5026
        }
      ],
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      "geneNCBI_id": 23522,
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        "ENST00000372724.5:c.4513C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000361809.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269272"
    },
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      "coordinates": [
        {
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          "end": 4864,
          "referenceAllele": "C",
          "start": 4863
        }
      ],
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        "hgvsWellDefined": "ENSP00000361810.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269273"
    },
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      "@id": "http://reg.genome.network/allele/PA2826396083",
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        {
          "allele": "T",
          "end": 5541,
          "referenceAllele": "C",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
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        "hgvsWellDefined": "NP_001243397.1:p.Arg1614_Arg1890delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826396931",
      "coordinates": [
        {
          "allele": "T",
          "end": 5214,
          "referenceAllele": "C",
          "start": 5213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
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        "hgvsWellDefined": "NP_001243398.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143739",
      "coordinates": [
        {
          "allele": "T",
          "end": 6090,
          "referenceAllele": "C",
          "start": 6089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
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        "NM_012330.3:c.5389C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_036462.2:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032507"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 3618,
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          "start": 576,
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          "startIntronOffset": 3619
        }
      ],
      "hgvs": [
        "XR_946064.1:n.577-3619G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS139652"
    },
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      "coordinates": [
        {
          "allele": "A",
          "end": 4704,
          "endIntronDirection": "-",
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          "referenceAllele": "G",
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          "startIntronOffset": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023481",
      "geneNCBI_id": 338599,
      "geneSymbol": "DUSP29",
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        "XM_011539747.2:c.*3622-3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538049.1:n.*3622-3619G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5807,
          "referenceAllele": "C",
          "start": 5806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016871489.1:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6102,
          "referenceAllele": "C",
          "start": 6101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016002.1:c.5389C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016871491.1:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5773,
          "referenceAllele": "C",
          "start": 5772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
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      "hgvs": [
        "XM_017016003.1:c.5389C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016871492.1:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5645,
          "referenceAllele": "C",
          "start": 5644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
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      "hgvs": [
        "XM_017016004.2:c.5227C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871493.1:p.Arg1743Ter",
        "hgvsWellDefined": "XP_016871493.1:p.Arg1743_Arg2019delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5258,
          "referenceAllele": "C",
          "start": 5257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016005.2:c.4840C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871494.1:p.Arg1614Ter",
        "hgvsWellDefined": "XP_016871494.1:p.Arg1614_Arg1890delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4931,
          "referenceAllele": "C",
          "start": 4930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016006.2:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871495.1:p.Arg1505Ter",
        "hgvsWellDefined": "XP_016871495.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4897,
          "referenceAllele": "C",
          "start": 4896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016008.2:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871497.1:p.Arg1505Ter",
        "hgvsWellDefined": "XP_016871497.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5052,
          "referenceAllele": "C",
          "start": 5051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016009.1:c.4351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871498.1:p.Arg1451Ter",
        "hgvsWellDefined": "XP_016871498.1:p.Arg1451_Arg1727delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143739",
      "coordinates": [
        {
          "allele": "T",
          "end": 5903,
          "referenceAllele": "C",
          "start": 5902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_012330.4:c.5389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036462.2:p.Arg1797Ter",
        "hgvsWellDefined": "NP_036462.2:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287239.10:c.5389C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012330.4:c.5389C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287239.4:p.Arg1797Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036462.2:p.Arg1797Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828381389",
      "coordinates": [
        {
          "allele": "T",
          "end": 4865,
          "referenceAllele": "C",
          "start": 4864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370132.1:c.4351C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357061.1:p.Arg1451Ter",
        "hgvsWellDefined": "NP_001357061.1:p.Arg1451_Arg1727delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828382074",
      "coordinates": [
        {
          "allele": "T",
          "end": 4224,
          "referenceAllele": "C",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370133.1:c.3700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357062.1:p.Arg1234Ter",
        "hgvsWellDefined": "NP_001357062.1:p.Arg1234_Arg1510delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828382715",
      "coordinates": [
        {
          "allele": "T",
          "end": 4366,
          "referenceAllele": "C",
          "start": 4365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370134.1:c.3304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357063.1:p.Arg1102Ter",
        "hgvsWellDefined": "NP_001357063.1:p.Arg1102_Arg1378delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828383340",
      "coordinates": [
        {
          "allele": "T",
          "end": 4098,
          "referenceAllele": "C",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370135.1:c.3046C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357064.1:p.Arg1016Ter",
        "hgvsWellDefined": "NP_001357064.1:p.Arg1016_Arg1292delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828384328",
      "coordinates": [
        {
          "allele": "T",
          "end": 5913,
          "referenceAllele": "C",
          "start": 5912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370136.1:c.5389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357065.1:p.Arg1797Ter",
        "hgvsWellDefined": "NP_001357065.1:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828385143",
      "coordinates": [
        {
          "allele": "T",
          "end": 5934,
          "referenceAllele": "C",
          "start": 5933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370137.1:c.5389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357066.1:p.Arg1797Ter",
        "hgvsWellDefined": "NP_001357066.1:p.Arg1797_Arg2073delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828386106",
      "coordinates": [
        {
          "allele": "T",
          "end": 5364,
          "referenceAllele": "C",
          "start": 5363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370138.1:c.4840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357067.1:p.Arg1614Ter",
        "hgvsWellDefined": "NP_001357067.1:p.Arg1614_Arg1890delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828386954",
      "coordinates": [
        {
          "allele": "T",
          "end": 4974,
          "referenceAllele": "C",
          "start": 4973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370139.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357068.1:p.Arg1505Ter",
        "hgvsWellDefined": "NP_001357068.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828387802",
      "coordinates": [
        {
          "allele": "T",
          "end": 5037,
          "referenceAllele": "C",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370140.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357069.1:p.Arg1505Ter",
        "hgvsWellDefined": "NP_001357069.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828388650",
      "coordinates": [
        {
          "allele": "T",
          "end": 4967,
          "referenceAllele": "C",
          "start": 4966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370141.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357070.1:p.Arg1505Ter",
        "hgvsWellDefined": "NP_001357070.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692165"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828389462",
      "coordinates": [
        {
          "allele": "T",
          "end": 4957,
          "referenceAllele": "C",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370142.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357071.1:p.Arg1505Ter",
        "hgvsWellDefined": "NP_001357071.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828390288",
      "coordinates": [
        {
          "allele": "T",
          "end": 4778,
          "referenceAllele": "C",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370143.1:c.4324C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357072.1:p.Arg1442Ter",
        "hgvsWellDefined": "NP_001357072.1:p.Arg1442_Arg1718delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828391108",
      "coordinates": [
        {
          "allele": "T",
          "end": 4838,
          "referenceAllele": "C",
          "start": 4837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370144.1:c.4324C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357073.1:p.Arg1442Ter",
        "hgvsWellDefined": "NP_001357073.1:p.Arg1442_Arg1718delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826396083",
      "coordinates": [
        {
          "allele": "T",
          "end": 5354,
          "referenceAllele": "C",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256468.2:c.4840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243397.1:p.Arg1614Ter",
        "hgvsWellDefined": "NP_001243397.1:p.Arg1614_Arg1890delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826396931",
      "coordinates": [
        {
          "allele": "T",
          "end": 5027,
          "referenceAllele": "C",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256469.2:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243398.1:p.Arg1505Ter",
        "hgvsWellDefined": "NP_001243398.1:p.Arg1505_Arg1781delinsMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714771"
    }
  ],
  "type": "nucleotide"
}