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  "communityStandardTitle": [
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        "RCV": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS767167",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.202C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.202C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Gln68Ter"
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          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Gln68Ter"
          }
        }
      }
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      "coordinates": [
        {
          "allele": "T",
          "end": 513,
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          "start": 512
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768834"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773257"
    },
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        {
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          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
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        "hgvsWellDefined": "ENSP00000500210.1:p.Gln68_Leu137delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluSerLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
        "ENST00000672336.1:c.202C>T"
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        "hgvsWellDefined": "ENSP00000500267.1:p.Gln68_Cys159delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773351"
    },
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        {
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          "end": 354,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773382"
    },
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        {
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          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773694"
    },
    {
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        {
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          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773737"
    },
    {
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        {
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      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255323"
    },
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394277.1:p.Gln68Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293856"
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        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
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      "referenceSequence": "http://reg.genome.network/refseq/RS294336"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "referenceSequence": "http://reg.genome.network/refseq/RS300046"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS322424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA278178",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.3:c.262C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "referenceSequence": "http://reg.genome.network/refseq/RS021688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591496",
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012448",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_001268655.1:p.Gln88_Cys179delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
        "XM_006713314.2:c.202C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006713377.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011532343.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA278178",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.4:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_000051.1:p.Gln88_Asp543delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.2:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.Gln90Ter",
        "hgvsWellDefined": "NP_001268652.1:p.Gln90_Asp545delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.2:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.Gln90Ter",
        "hgvsWellDefined": "NP_001268653.1:p.Gln90_Asp545delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591496",
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.2:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.Gln68Ter",
        "hgvsWellDefined": "NP_001268654.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827195657",
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001323582.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310511.1:p.Gln68Ter",
        "hgvsWellDefined": "NP_001310511.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.2:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.Gln68Ter",
        "hgvsWellDefined": "XP_011532343.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_017007088.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.Gln68Ter",
        "hgvsWellDefined": "XP_016862577.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Gln68Ter",
        "hgvsWellDefined": "XP_024309492.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826589528",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.Gln68Ter",
        "hgvsWellDefined": "NP_001268652.2:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590480",
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.Gln68Ter",
        "hgvsWellDefined": "NP_001268653.2:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445725",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Gln68Ter",
        "hgvsWellDefined": "NP_001357587.1:p.Gln68_Asp523delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.202C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.202C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Gln68Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Gln68Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828448678",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Gln68Ter",
        "hgvsWellDefined": "NP_001357681.1:p.Gln68_Lys364delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisArgSerHisSerValAlaGlnThrGlyValGluTrpHisAspLeuSerSerProLysProLeuProProArgLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828449282",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:p.Gln68Ter",
        "hgvsWellDefined": "NP_001357682.1:p.Gln68_Phe141delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluAlaSerTyrValGluValArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826592474",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.202C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:p.Gln68Ter",
        "hgvsWellDefined": "NP_001268655.2:p.Gln68_Cys159delinsAsnLeuAspIleTyrGluGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}