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          "start": 2092
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      "geneNCBI_id": 80169,
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        "ENST00000699861.1:n.2093C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS910733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3031,
          "referenceAllele": "C",
          "start": 3030
        }
      ],
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      "hgvs": [
        "ENST00000699862.1:n.3031C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS910734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756234"
    },
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS760910"
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        {
          "allele": "T",
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          "start": 2018
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        {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000651323.1:c.2071C>T"
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          "RefSeq": {
            "hgvs": "NM_025099.6:c.2071C>T"
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        },
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        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
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      ],
      "gene": "http://reg.genome.network/gene/GN026169",
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      "hgvs": [
        "ENST00000578240.1:n.299C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580461045",
      "coordinates": [
        {
          "allele": "T",
          "end": 2130,
          "referenceAllele": "C",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.5:c.2071C>T"
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      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Gln691Ter",
        "hgvsWellDefined": "NP_079375.3:p.Gln691_Cys1217delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "C",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.1:n.2025C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.2:c.1942C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Gln648Ter",
        "hgvsWellDefined": "XP_006721640.1:p.Gln648_Cys1174delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074141"
    },
    {
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        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006721641.1:p.Gln691_Cys1140delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_006721642.1:p.Gln691Ter",
        "hgvsWellDefined": "XP_006721642.1:p.Gln691_Ser979delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.1:c.1966C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Gln656Ter",
        "hgvsWellDefined": "XP_011522312.1:p.Gln656_Cys1182delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.1:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_011522313.1:p.Gln392_Cys918delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.2:n.2114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.2:n.2114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429825.1:n.2114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580461045",
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.6:c.2071C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Gln691Ter",
        "hgvsWellDefined": "NP_079375.3:p.Gln691_Cys1217delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2071C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2071C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Gln691Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Gln691Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.3:c.1942C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Gln648Ter",
        "hgvsWellDefined": "XP_006721640.1:p.Gln648_Cys1174delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.3:c.2071C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Gln691Ter",
        "hgvsWellDefined": "XP_006721641.1:p.Gln691_Cys1140delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.2:c.1966C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Gln656Ter",
        "hgvsWellDefined": "XP_011522312.1:p.Gln656_Cys1182delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_011522313.1:p.Gln392_Cys918delinsPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
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