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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
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        "XM_005266022.1:c.295C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005266079.1:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064892"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
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        "XM_005266023.1:c.295C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005266080.1:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064893"
    },
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      "coordinates": [
        {
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          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533047.1:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533048.1:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.1:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Gln99Ter",
        "hgvsWellDefined": "XP_011533049.1:p.Gln100_Val263delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.295C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_005266078.1:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
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      "geneSymbol": "CLN8",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533048.1:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
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      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.2:c.295C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533049.1:p.Gln100_Val263delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysGluThrGlySerLeuGluArgLysAsnLysHisAsnLysSerLeuLeuProSerGlySerArgTrpValAspAspIleSerProSerLysValHisCysSerValAsnSerThrAspCysSerCysIleThrThrMetAspThrSerArgValSerAspThrValLeuAlaProGlyAsnSerArgArgAsnLeuCysSerTrpCysProLeuArgLeuAlaProSerGlyThrArgTrpGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068949",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Gln99Ter",
        "hgvsWellDefined": "NP_061764.2:p.Gln100_Pro286delinsAsnTrpCysTrpPheHisIleThrThrAlaThrGlyPhePheCysPheGluAsnValAlaValHisLeuSerAsnLeuIlePheArgThrPheAspLeuPheLeuValIleHisHisLeuPheAlaPheLeuGlyPheLeuGlyCysLeuValAsnLeuGlnAlaGlyHisTyrLeuAlaMetThrThrLeuLeuLeuGluMetSerThrProPheThrCysValSerTrpMetLeuLeuLysAlaGlyTrpSerGluSerLeuPheTrpLysLeuAsnGlnTrpLeuMetIleHisMetPheHisCysArgMetValLeuThrTyrHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.295C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.295C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Gln99Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Gln99Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}