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      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.7:c.2021C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Ser674Ter",
        "hgvsWellDefined": "ENSP00000396018.2:p.Ser674_Leu1031delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2115,
          "referenceAllele": "C",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581671.2:n.2115C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000643543.1:c.*833C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494323.1:n.*833C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000651323.1:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498499.1:p.Ser709Ter",
        "hgvsWellDefined": "ENSP00000498499.1:p.Ser709_Cys1217delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771599",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2126C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2126C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Ser709Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Ser709Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000315684.12:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313759.8:p.Ser709Ter",
        "hgvsWellDefined": "ENSP00000313759.8:p.Ser709_Cys1217delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.6:c.2021C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Ser674Ter",
        "hgvsWellDefined": "ENSP00000396018.2:p.Ser674_Leu1031delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578240.1:n.354C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22,
          "referenceAllele": "C",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578537.1:c.22C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139755041",
      "coordinates": [
        {
          "allele": "G",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.5:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Ser709Ter",
        "hgvsWellDefined": "NP_079375.3:p.Ser709_Cys1217delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.1:n.2080C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.2:c.1997C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Ser666Ter",
        "hgvsWellDefined": "XP_006721640.1:p.Ser666_Cys1174delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.2:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Ser709Ter",
        "hgvsWellDefined": "XP_006721641.1:p.Ser709_Cys1140delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721579.2:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721642.1:p.Ser709Ter",
        "hgvsWellDefined": "XP_006721642.1:p.Ser709_Ser979delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.1:c.2021C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Ser674Ter",
        "hgvsWellDefined": "XP_011522312.1:p.Ser674_Cys1182delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.1:c.1229C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Ser410Ter",
        "hgvsWellDefined": "XP_011522313.1:p.Ser410_Cys918delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.2:n.2169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.2:n.2169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429825.1:n.2169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139755041",
      "coordinates": [
        {
          "allele": "G",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.6:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Ser709Ter",
        "hgvsWellDefined": "NP_079375.3:p.Ser709_Cys1217delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2126C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2126C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Ser709Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Ser709Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.3:c.1997C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Ser666Ter",
        "hgvsWellDefined": "XP_006721640.1:p.Ser666_Cys1174delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.3:c.2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Ser709Ter",
        "hgvsWellDefined": "XP_006721641.1:p.Ser709_Cys1140delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.2:c.2021C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Ser674Ter",
        "hgvsWellDefined": "XP_011522312.1:p.Ser674_Cys1182delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.2:c.1229C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Ser410Ter",
        "hgvsWellDefined": "XP_011522313.1:p.Ser410_Cys918delinsAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752639.1:n.2040C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752640.1:n.2169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752641.1:n.2169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752642.1:n.2169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752643.1:n.2599C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
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      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
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}