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        "hgvsWellDefined": "ENSP00000259008.2:p.Arg798_Lys1249delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741952",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.2392C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.2392C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Arg798Ter"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Arg798Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2660,
          "referenceAllele": "C",
          "start": 2659
        }
      ],
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      "geneNCBI_id": 83990,
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      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "ENST00000577598.5:c.2392C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464654.1:p.Arg798Ter",
        "hgvsWellDefined": "ENSP00000464654.1:p.Arg798_Val994delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysSerMetLysSerSerSerHisLeuProLeuIleGluLysSerPheIleIlePheSerGluMetIlePheIleTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253270",
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
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        "NM_032043.2:c.2392C>T",
        "LRG_300t1:c.2392C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3136,
          "referenceAllele": "C",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011523634.1:p.Arg818_Lys1269delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3132,
          "referenceAllele": "C",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011523635.1:p.Arg818_Lys1269delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3041,
          "referenceAllele": "C",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011523636.1:p.Arg818Ter",
        "hgvsWellDefined": "XP_011523636.1:p.Arg818_Lys1269delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3076,
          "referenceAllele": "C",
          "start": 3075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011523637.1:p.Arg798_Lys1249delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3016,
          "referenceAllele": "C",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
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      "hgvs": [
        "XM_011525336.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523638.1:p.Arg778Ter",
        "hgvsWellDefined": "XP_011523638.1:p.Arg778_Lys1229delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2935,
          "referenceAllele": "C",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525337.1:c.2251C>T"
      ],
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        {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS547842"
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    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3519,
          "referenceAllele": "C",
          "start": 3518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525339.3:c.*33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523641.1:n.*33C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3315,
          "referenceAllele": "C",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_011525340.3:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523642.1:p.Arg818Ter",
        "hgvsWellDefined": "XP_011523642.1:p.Arg818_Phe853delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2006,
          "referenceAllele": "C",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025200.1:c.1909C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880689.1:p.Arg637Ter",
        "hgvsWellDefined": "XP_016880689.1:p.Arg637_Lys1088delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025201.1:c.1909C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880690.1:p.Arg637Ter",
        "hgvsWellDefined": "XP_016880690.1:p.Arg637_Lys1088delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025202.1:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880691.1:p.Arg180Ter",
        "hgvsWellDefined": "XP_016880691.1:p.Arg180_Lys631delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "XM_017025203.1:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880692.1:p.Arg180Ter",
        "hgvsWellDefined": "XP_016880692.1:p.Arg180_Lys631delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253270",
      "coordinates": [
        {
          "allele": "T",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NM_032043.3:c.2392C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114432.2:p.Arg798Ter",
        "hgvsWellDefined": "NP_114432.2:p.Arg798_Lys1249delinsGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259008.7:c.2392C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032043.3:c.2392C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259008.2:p.Arg798Ter"
          },
          "RefSeq": {
            "hgvs": "NP_114432.2:p.Arg798Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}