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          "allele": "T",
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          "referenceAllele": "C",
          "start": 695
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      ],
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      "geneNCBI_id": 11277,
      "geneSymbol": "TREX1",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_009179.2:p.Arg154_Glu304delinsAlaSerSerProSerGluHisGlyProArgLysSerTyrSerLeuGlySerIleTyrThrArgLeuTyrGlyGlnSerProProAspSerHisThrAlaGluGlyAspValLeuAlaLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAlaHisAlaArgProPheGlyThrIleArgProMetTyrGlyValThrAlaSerAlaArgThrLysProArgProSerAlaValThrThrThrAlaHisLeuAlaThrThrArgAsnThrSerProSerLeuGlyGluSerArgGlyThrLysAspLeuProProValLysAspProGlyAlaLeuSerArgGluGlyLeuLeuAlaProLeuGlyLeuLeuAlaIleLeuThrLeuAlaValAlaThrLeuTyrGlyLeuSerLeuAlaThrProGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525471"
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        {
          "allele": "T",
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          "start": 595
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      ],
      "gene": "http://reg.genome.network/gene/GN012269",
      "geneNCBI_id": 11277,
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      "hgvs": [
        "NM_033629.5:c.490C>T"
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      "proteinEffect": {
        "hgvs": "NP_338599.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_338599.1:p.Arg164_Glu314delinsAlaSerSerProSerGluHisGlyProArgLysSerTyrSerLeuGlySerIleTyrThrArgLeuTyrGlyGlnSerProProAspSerHisThrAlaGluGlyAspValLeuAlaLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAlaHisAlaArgProPheGlyThrIleArgProMetTyrGlyValThrAlaSerAlaArgThrLysProArgProSerAlaValThrThrThrAlaHisLeuAlaThrThrArgAsnThrSerProSerLeuGlyGluSerArgGlyThrLysAspLeuProProValLysAspProGlyAlaLeuSerArgGluGlyLeuLeuAlaProLeuGlyLeuLeuAlaIleLeuThrLeuAlaValAlaThrLeuTyrGlyLeuSerLeuAlaThrProGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS531862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340199",
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 595
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      ],
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        "NM_033629.6:c.490C>T"
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        "hgvs": "NP_338599.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_338599.1:p.Arg164_Glu314delinsAlaSerSerProSerGluHisGlyProArgLysSerTyrSerLeuGlySerIleTyrThrArgLeuTyrGlyGlnSerProProAspSerHisThrAlaGluGlyAspValLeuAlaLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAlaHisAlaArgProPheGlyThrIleArgProMetTyrGlyValThrAlaSerAlaArgThrLysProArgProSerAlaValThrThrThrAlaHisLeuAlaThrThrArgAsnThrSerProSerLeuGlyGluSerArgGlyThrLysAspLeuProProValLysAspProGlyAlaLeuSerArgGluGlyLeuLeuAlaProLeuGlyLeuLeuAlaIleLeuThrLeuAlaValAlaThrLeuTyrGlyLeuSerLeuAlaThrProGlyGluTer"
      },
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        }
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      "coordinates": [
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      "hgvs": [
        "NM_130384.3:c.*1591C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS671788",
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        "nucleotide": {
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            "hgvs": "ENST00000320211.10:c.*1591C>T"
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            "hgvs": "NP_569055.1:n.*1591C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829703432",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN012269",
      "geneNCBI_id": 11277,
      "geneSymbol": "TREX1",
      "hgvs": [
        "NM_007248.5:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009179.2:p.Arg154Ter",
        "hgvsWellDefined": "NP_009179.2:p.Arg154_Glu304delinsAlaSerSerProSerGluHisGlyProArgLysSerTyrSerLeuGlySerIleTyrThrArgLeuTyrGlyGlnSerProProAspSerHisThrAlaGluGlyAspValLeuAlaLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAlaHisAlaArgProPheGlyThrIleArgProMetTyrGlyValThrAlaSerAlaArgThrLysProArgProSerAlaValThrThrThrAlaHisLeuAlaThrThrArgAsnThrSerProSerLeuGlyGluSerArgGlyThrLysAspLeuProProValLysAspProGlyAlaLeuSerArgGluGlyLeuLeuAlaProLeuGlyLeuLeuAlaIleLeuThrLeuAlaValAlaThrLeuTyrGlyLeuSerLeuAlaThrProGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033499",
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      "geneSymbol": "ATRIP",
      "hgvs": [
        "NM_032166.4:c.*1591C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115542.2:n.*1591C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS699046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3866,
          "referenceAllele": "C",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033499",
      "geneNCBI_id": 84126,
      "geneSymbol": "ATRIP",
      "hgvs": [
        "NM_001271022.2:c.*1591C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257951.1:n.*1591C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS715230"
    }
  ],
  "type": "nucleotide"
}