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  "communityStandardTitle": [
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_001370658.1:c.220G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS773275"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS773287"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
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        {
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      ],
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580102805",
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        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN001122",
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      "hgvs": [
        "NM_000060.4:c.280G>T"
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      "proteinEffect": {
        "hgvs": "NP_000051.1:p.Glu94Ter",
        "hgvsWellDefined": "NP_000051.1:p.Glu94_Asp543delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.2:c.286G>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
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      "hgvs": [
        "NM_001281724.2:c.286G>T"
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        "hgvsWellDefined": "NP_001268653.1:p.Glu96_Asp545delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591500",
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.2:c.220G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268654.1:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827195660",
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001323582.1:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310511.1:p.Glu74Ter",
        "hgvsWellDefined": "NP_001310511.1:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.2:c.220G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011532343.1:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_017007088.1:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.Glu74Ter",
        "hgvsWellDefined": "XP_016862577.1:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Glu74Ter",
        "hgvsWellDefined": "XP_024309492.1:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826589535",
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_001268652.2:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590489",
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_001268653.2:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445731",
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Glu74Ter",
        "hgvsWellDefined": "NP_001357587.1:p.Glu74_Asp523delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisSerLysPheLeuLysIleLeuSerGlyAspProTyrCysGluLysAspAlaGlnGluValHisCysAspGluAlaThrLysTrpAsnValAsnAlaProProThrPheHisSerGluMetMetTyrAspAsnPheThrLeuValProValTrpGlyLysGluGlyTyrLeuHisValCysSerAsnGlyLeuCysCysTyrLeuLeuTyrGluArgProThrLeuSerLysGluLeuTyrAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyrTyrIleGlnValCysAlaLeuValArgCysGlyGlyLeuGlyPheAspThrCysGlyGlnGluIleThrGluAlaThrGlyIlePheGluPheHisLeuTrpGlyAsnPheSerThrSerTyrIlePheProLeuPheLeuThrSerGlyMetThrLeuGluValProAspGlnLeuGlyTrpGluAsnAspHisTyrPheLeuArgLysSerArgLeuSerSerGlyLeuValThrAlaAlaLeuTyrGlyArgLeuTyrGluArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.220G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.220G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Glu74Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Glu74Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828448683",
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Glu74Ter",
        "hgvsWellDefined": "NP_001357681.1:p.Glu74_Lys364delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValLeuGlnArgLeuSerCysMetAlaIleArgGlyAspMetPheLeuValAlaAsnLeuGlyThrLysGluProCysHisSerSerAspProArgCysProLysAspGlyArgTyrGlnPheAsnThrAsnValValPheSerAsnAsnGlyThrLeuValAspArgTyrArgLysHisAsnLeuTyrPheGluAlaAlaPheAspValProLeuLysValAspLeuIleThrPheAspThrProPheAlaGlyArgPheGlyIlePheThrCysPheAspIleLeuPhePheAspProAlaIleArgValLeuArgAspTyrLysValLysHisValValTyrProThrAlaTrpMetAsnGlnLeuProLeuLeuAlaAlaIleGluIleGlnLysAlaPheAlaValAlaPheGlyIleAsnValLeuAlaAlaAsnValHisHisProValLeuGlyMetThrGlySerGlyIleHisThrProLeuGluSerPheTrpTyrHisAspMetGluAsnProLysSerHisLeuIleIleAlaGlnValAlaLysAsnProValGlyLeuIleGlyAlaGluAsnAlaThrGlyGluThrAspProSerHisArgSerHisSerValAlaGlnThrGlyValGluTrpHisAspLeuSerSerProLysProLeuProProArgLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828449286",
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:p.Glu74Ter",
        "hgvsWellDefined": "NP_001357682.1:p.Glu74_Phe141delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluAlaSerTyrValGluValArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826592481",
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_001268655.2:p.Glu74_Cys159delinsGlnGlnValMetThrAlaAlaGlnLysAspValGlnIleIleValPheProGluAspGlyIleHisGlyPheAsnPheThrArgThrSerIleTyrProPheLeuAspPheMetProSerProGlnValValArgTrpAsnProCysLeuGluProHisArgPheAsnAspThrGluValIleProAlaPhePheLeuSerArgLeuArgValHisArgGlyAspLeuSerGlnGlyProGluAlaValThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}