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  "communityStandardTitle": [
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      "hgvs": [
        "ENST00000696075.1:c.7C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000512374.1:p.Gln3Ter",
        "hgvsWellDefined": "ENSP00000512374.1:p.Gln3_His48delinsThrProAlaPheAspLysProLysValGluLeuHisValHisLeuAspGlySerIleLysProGluThrIleLeuTyrTyrGlySerGlnLeuGlnAlaArgSerGlyThrValArgThrTrpArgProGlnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907553"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907554"
    },
    {
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        {
          "allele": "T",
          "end": 143,
          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78,
          "referenceAllele": "C",
          "start": 77
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000512379.1:p.Gln3_Tyr400delinsThrProAlaPheAspLysProLysValGluLeuHisValHisLeuAspGlySerIleLysProGluThrIleLeuTyrTyrGlyArgArgArgGlyIleAlaLeuProAlaAsnThrAlaGluGlyLeuLeuAsnValIleGlyMetAspLysProLeuThrLeuProAspPheLeuAlaLysPheAspTyrTyrMetProAlaIleAlaGlyCysArgGluAlaIleLysArgIleAlaTyrGluPheValGluMetLysAlaLysGluGlyValValTyrValGluValArgTyrSerProHisLeuLeuAlaAsnSerLysValGluProIleProTrpAsnGlnAlaGluGlyAspLeuThrProAspGluValValAlaLeuValGlyGlnGlyLeuGlnGluGlyGluArgAspPheGlyValLysAlaArgSerIleLeuCysCysMetArgHisGlnProAsnTrpSerProLysValValGluLeuCysLysLysTyrGlnGlnGlnThrValValAlaIleAspLeuAlaGlyAspGluThrIleProGlySerSerLeuLeuProGlyHisValGlnAlaTyrGlnGluAlaValLysSerGlyIleHisArgThrValHisAlaGlyGluValGlySerAlaGluValValLysGluAlaValAspIleLeuLysThrGluArgLeuGlyHisGlyTyrHisThrLeuGluAspGlnAlaLeuTyrAsnArgLeuArgGlnGluAsnMetHisPheGluIleCysProTrpSerSerTyrLeuThrGlyAlaTrpLysProAspThrGluHisAlaValIleArgLeuLysAsnAspGlnAlaAsnTyrSerLeuAsnThrAspAspProLeuIlePheLysSerThrLeuAspThrAspTyrGlnMetThrLysArgAspMetGlyPheThrGluGluGluPheLysArgLeuAsnIleAsnAlaAlaLysSerSerPheLeuProGluAspGluLysArgGluLeuLeuAspLeuLeuTyrLysAlaTyrGlyMetProProSerAlaSerAlaGluProLeuLysThrProLeuLeuGlnAlaPheThrLeuTrpSerHisProAsnSerValGlyLeuSerAsnIlePheThrPheIleProSerLysLysThrMetIleSerIleValSerTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907557"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS907561"
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      "coordinates": [
        {
          "allele": "T",
          "end": 99,
          "referenceAllele": "C",
          "start": 98
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000512399.1:p.Gln3_Arg204delinsThrProAlaPheAspLysProLysValGluLeuHisValHisLeuAspGlySerIleLysProGluThrIleLeuTyrTyrGlyArgArgArgGlyIleAlaLeuProAlaAsnThrAlaGluGlyLeuLeuAsnValIleGlyMetAspLysProLeuThrLeuProAspPheLeuAlaLysPheAspTyrTyrMetProAlaIleAlaGlyCysArgGluAlaIleLysArgIleAlaTyrGluPheValGluMetLysAlaLysGluGlyValValTyrValGluValArgTyrSerProHisLeuLeuAlaAsnSerLysValGluProIleProTrpAsnGlnAlaGluLeuTrpThrTyrSerArgGlnSerGlyTrpAspThrAlaThrThrProTrpLysThrArgProPheIleThrGlyCysGlyArgLysThrCysThrSerArgSerAlaProGlyProAlaThrSerLeuValProGlySerArgThrArgSerMetGlnSerPheGlySerLysMetThrArgLeuThrThrArgSerThrGlnMetThrArgSerSerSerSerProProTrpThrLeuIleThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99,
          "referenceAllele": "C",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000512400.1:p.Gln3_Pro178delinsThrProAlaPheAspLysProLysValGluLeuHisValHisLeuAspGlySerIleLysProGluThrIleLeuTyrTyrGlyArgArgArgGlyIleAlaLeuProAlaAsnThrAlaGluGlyLeuLeuAsnValIleGlyMetAspLysProLeuThrLeuProAspPheLeuAlaLysPheAspTyrTyrMetProAlaIleAlaGlyCysArgGluAlaIleLysArgIleAlaTyrGluPheValGluMetLysAlaLysGluGlyValValTyrValGluValArgTyrSerProHisLeuLeuAlaAsnSerLysValGluProIleProTrpAsnGlnAlaGluGlyAspLeuThrProAspGluValValAlaLeuValGlyGlnGlyLeuGlnGluGlyGluArgAspPheGlyValLysAlaArgSerIleLeuCysCysMetArgHisGlnProAsnAspValLeuAsnGlyProProPheProHisLeuArgMetGlyIleSerLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907581"
    },
    {
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        {
          "allele": "T",
          "end": 99,
          "referenceAllele": "C",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000361965.4:p.Gln3_Leu363delinsThrProAlaPheAspLysProLysValGluLeuHisValHisLeuAspGlySerIleLysProGluThrIleLeuTyrTyrGlyArgArgArgGlyIleAlaLeuProAlaAsnThrAlaGluGlyLeuLeuAsnValIleGlyMetAspLysProLeuThrLeuProAspPheLeuAlaLysPheAspTyrTyrMetProAlaIleAlaGlyCysArgGluAlaIleLysArgIleAlaTyrGluPheValGluMetLysAlaLysGluGlyValValTyrValGluValArgTyrSerProHisLeuLeuAlaAsnSerLysValGluProIleProTrpAsnGlnAlaGluGlyAspLeuThrProAspGluValValAlaLeuValGlyGlnGlyLeuGlnGluGlyGluArgAspPheGlyValLysAlaArgSerIleLeuCysCysMetArgHisGlnProAsnTrpSerProLysValValGluLeuCysLysLysTyrGlnGlnGlnThrValValAlaIleAspLeuAlaGlyAspGluThrIleProGlySerSerLeuLeuProGlyHisValGlnAlaTyrGlnGluAlaValLysSerGlyIleHisArgThrValHisAlaGlyGluValGlySerAlaGluValValLysGluAlaValAspIleLeuLysThrGluArgLeuGlyHisGlyTyrHisThrLeuGluAspGlnAlaLeuTyrAsnArgLeuArgGlnGluAsnMetHisPheGluIleCysProTrpSerSerTyrLeuThrGlyAlaTrpLysProAspThrGluHisAlaValIleArgLeuLysAsnAspGlnAlaAsnTyrSerLeuAsnThrAspAspProLeuIlePheLysSerThrLeuAspThrAspTyrGlnMetThrLysArgAspMetGlyPheThrGluGluGluPheLysArgLeuAsnIleAsnAlaAlaLysSerSerPheLeuProGluAspGluLysArgGluLeuLeuAspLeuLeuTyrLysAlaTyrGlyMetProProSerAlaSerAlaGlyGlnAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Gln3Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Gln3Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
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      "geneSymbol": "ADA",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Gln3Ter",
        "hgvsWellDefined": "ENSP00000361965.4:p.Gln3_Leu363delinsThrProAlaPheAspLysProLysValGluLeuHisValHisLeuAspGlySerIleLysProGluThrIleLeuTyrTyrGlyArgArgArgGlyIleAlaLeuProAlaAsnThrAlaGluGlyLeuLeuAsnValIleGlyMetAspLysProLeuThrLeuProAspPheLeuAlaLysPheAspTyrTyrMetProAlaIleAlaGlyCysArgGluAlaIleLysArgIleAlaTyrGluPheValGluMetLysAlaLysGluGlyValValTyrValGluValArgTyrSerProHisLeuLeuAlaAsnSerLysValGluProIleProTrpAsnGlnAlaGluGlyAspLeuThrProAspGluValValAlaLeuValGlyGlnGlyLeuGlnGluGlyGluArgAspPheGlyValLysAlaArgSerIleLeuCysCysMetArgHisGlnProAsnTrpSerProLysValValGluLeuCysLysLysTyrGlnGlnGlnThrValValAlaIleAspLeuAlaGlyAspGluThrIleProGlySerSerLeuLeuProGlyHisValGlnAlaTyrGlnGluAlaValLysSerGlyIleHisArgThrValHisAlaGlyGluValGlySerAlaGluValValLysGluAlaValAspIleLeuLysThrGluArgLeuGlyHisGlyTyrHisThrLeuGluAspGlnAlaLeuTyrAsnArgLeuArgGlnGluAsnMetHisPheGluIleCysProTrpSerSerTyrLeuThrGlyAlaTrpLysProAspThrGluHisAlaValIleArgLeuLysAsnAspGlnAlaAsnTyrSerLeuAsnThrAspAspProLeuIlePheLysSerThrLeuAspThrAspTyrGlnMetThrLysArgAspMetGlyPheThrGluGluGluPheLysArgLeuAsnIleAsnAlaAlaLysSerSerPheLeuProGluAspGluLysArgGluLeuLeuAspLeuLeuTyrLysAlaTyrGlyMetProProSerAlaSerAlaGlyGlnAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91,
          "referenceAllele": "C",
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        }
      ],
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      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.5:n.91C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 301,
          "referenceAllele": "C",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000535573.1:n.332+301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 301,
          "referenceAllele": "C",
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          "startIntronDirection": "+",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.1:n.213+301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "C",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.5:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Gln3Ter",
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  ],
  "type": "nucleotide"
}