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      },
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    },
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      "coordinates": [
        {
          "allele": "A",
          "end": 514,
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          "start": 513
        }
      ],
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    },
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        {
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          "end": 495,
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          "start": 494
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      ],
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        "ENST00000482824.1:n.495G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS322424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827151",
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
    },
    {
      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021687"
    },
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS021688"
    },
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        {
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          "end": 718,
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          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012456",
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "hgvs": [
        "NM_001281726.1:c.420G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268655.1:p.Trp140_Cys179delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
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        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011532343.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827151",
      "coordinates": [
        {
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000051.1:p.Trp140_Asp543delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "hgvs": [
        "NM_001281723.2:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.Trp142Ter",
        "hgvsWellDefined": "NP_001268652.1:p.Trp142_Asp545delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
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      "geneNCBI_id": 686,
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      ],
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        "hgvsWellDefined": "NP_001268653.1:p.Trp142_Asp545delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591568",
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
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      "geneNCBI_id": 686,
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      "hgvs": [
        "NM_001281725.2:c.360G>A"
      ],
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        "hgvsWellDefined": "NP_001268654.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827195693",
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "hgvs": [
        "NM_001323582.1:c.360G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001310511.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "hgvs": [
        "XM_011534041.2:c.360G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011532343.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "hgvs": [
        "XM_017007088.1:c.360G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.Trp120Ter",
        "hgvsWellDefined": "XP_016862577.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.360G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Trp120Ter",
        "hgvsWellDefined": "XP_024309492.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826589603",
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.360G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268652.2:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590554",
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.360G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268653.2:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445800",
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.360G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_001357587.1:p.Trp120_Asp523delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.360G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.360G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Trp120Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Trp120Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828448750",
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.360G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_001357681.1:p.Trp120_Lys364delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisArgSerHisSerValAlaGlnThrGlyValGluTrpHisAspLeuSerSerProLysProLeuProProArgLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499254619",
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.360G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_001357682.1:p.Trp120_Phe141delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluAlaSerTyrValGluValArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826592535",
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.360G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:p.Trp120Ter",
        "hgvsWellDefined": "NP_001268655.2:p.Trp120_Cys159delinsAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}