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    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 708,
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        {
          "allele": "T",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085556"
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      "referenceSequence": "http://reg.genome.network/refseq/RS085557"
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      "referenceSequence": "http://reg.genome.network/refseq/RS085558"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085559"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085560"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS085563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "referenceAllele": "C",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011516692.1:n.-148C>T"
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        "hgvsWellDefined": "NP_001073270.1:p.Gln116_Tyr461delinsTyrHisLeuTrpLysAsnGluGluGlyTrpPheArgIleAlaGluAsnMetGlyPheGlnCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357998.10:c.346C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001079802.2:c.346C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350687.6:p.Gln116Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001073270.1:p.Gln116Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826230899",
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001198963.2:c.346C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185892.1:p.Gln116Ter",
        "hgvsWellDefined": "NP_001185892.1:p.Gln116_Ala430delinsTyrHisLeuTrpLysAsnGluGluGlyTrpPheArgIleAlaGluAsnMetGlyPheGlnCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysAsnGlnGlnGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827611425",
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351496.2:c.346C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001338425.1:p.Gln116_Tyr461delinsTyrHisLeuTrpLysAsnGluGluGlyTrpPheArgIleAlaGluAsnMetGlyPheGlnCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031061",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351497.2:c.277C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338426.1:p.Gln93Ter",
        "hgvsWellDefined": "NP_001338426.1:p.Gln93_Tyr438delinsTyrHisLeuTrpLysAsnGluGluGlyTrpPheArgIleAlaGluAsnMetGlyPheGlnCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrLeuPheProLysPheThrLeuCysTrpThrGluPheValAspMetLysValHisValProCysGluThrLeuGluTyrIleGluAlaAsnTyrGlyLysThrTrpLysIleProValLysThrTrpAspTrpLysArgSerProProAsnValGlnProAsnGlyIleTrpProIleSerGluTrpAspGluValIleGlnLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612413",
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351498.2:c.346C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338427.1:p.Gln116Ter",
        "hgvsWellDefined": "NP_001338427.1:p.Gln116_Asp412delinsTyrHisLeuTrpLysAsnGluGluGlyTrpPheArgIleAlaGluAsnMetGlyPheGlnCysLeuLysIleGluSerLysAspProArgLeuAspGlyIleAspSerLeuSerGlyThrGluIleProLeuHisTyrIleCysLysLeuAlaThrHisAlaIleHisLeuValValPheHisGluArgSerGlyAsnTyrLeuTrpHisGlyHisLeuArgLeuLysGluHisIleAspArgLysPheValProPheArgLysLeuGlnPheGlyArgTyrProGlyAlaPheAspArgProGluLeuGlnGlnValThrValAspGlyLeuGluValLeuIleProLysAspProMetHisPheValGluGluValProHisSerArgPheIleGluCysArgTyrLysGluAlaArgAlaPhePheGlnGlnTyrLeuAspAspAsnThrValGluAlaValAlaPheArgLysSerAlaLysGluLeuLeuGlnLeuAlaAlaLysThrLeuAsnLysLeuGlyValProPheTrpLeuSerSerGlyThrCysLeuGlyTrpTyrArgGlnCysAsnIleIleProTyrSerLysAspValAspLeuGlyIlePheIleGlnAspTyrLysSerAspIleIleLeuAlaPheGlnAspAlaGlyLeuProLeuLysHisLysPheGlyLysValGluAspSerLeuGluLeuSerPheGlnGlyLysAspAspValLysLeuAspValPhePhePheTyrGluGluThrAspHisMetTrpAsnGlyGlyThrGlnAlaLysThrGlyLysLysPheLysTyrGluSerAsnLysTyrLeuPheIleLysIleProValSerGluValTyrThrValLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351499.2:c.-169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338428.1:n.-169C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351500.2:c.-169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338429.1:n.-169C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351501.2:c.-169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338430.1:n.-169C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351502.2:c.-169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338431.1:n.-169C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147213.2:n.561C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147214.2:n.469C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704539"
    }
  ],
  "type": "nucleotide"
}