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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS059246"
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      "referenceSequence": "http://reg.genome.network/refseq/RS059250"
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        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059251"
    },
    {
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        {
          "allele": "T",
          "end": 1863,
          "referenceAllele": "C",
          "start": 1862
        }
      ],
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        "XM_005250668.2:c.1498C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059252"
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        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071531"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1957
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS071532"
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        {
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          "start": 1807
        }
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS071533"
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        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1989,
          "referenceAllele": "C",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1877,
          "referenceAllele": "C",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS083854"
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    {
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1799
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      ],
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS083855"
    },
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1757
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516657.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514959.1:p.Gln500Ter",
        "hgvsWellDefined": "XP_011514959.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1721,
          "referenceAllele": "C",
          "start": 1720
        }
      ],
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      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516658.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514960.1:p.Gln500Ter",
        "hgvsWellDefined": "XP_011514960.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083858"
    },
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        {
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          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
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      ],
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      "hgvs": [
        "XM_011516659.1:c.1498C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514961.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS083859"
    },
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        {
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          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
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      ],
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        "XM_011516660.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514962.1:p.Gln500Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083860"
    },
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        {
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          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
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        "XM_011516661.1:c.1498C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514963.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825317059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559391",
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        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559659",
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        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827559834",
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        {
          "allele": "T",
          "end": 2275,
          "referenceAllele": "C",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
        "hgvs": "NP_001337600.1:p.Gln262Ter",
        "hgvsWellDefined": "NP_001337600.1:p.Gln262_Ser498delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560122",
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        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001337601.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337601.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560410",
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001337602.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560698",
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        {
          "allele": "T",
          "end": 2194,
          "referenceAllele": "C",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827560986",
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        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001337604.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337604.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561274",
      "coordinates": [
        {
          "allele": "T",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350676.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337605.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337605.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561562",
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350677.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337606.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337606.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827561850",
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350678.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337607.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337607.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562138",
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        {
          "allele": "T",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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        "NM_001350679.1:c.1498C>T"
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      "proteinEffect": {
        "hgvs": "NP_001337608.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337608.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562426",
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350680.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337609.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337609.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827562714",
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350681.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337610.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337610.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563002",
      "coordinates": [
        {
          "allele": "T",
          "end": 2404,
          "referenceAllele": "C",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "proteinEffect": {
        "hgvs": "NP_001337611.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337611.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563290",
      "coordinates": [
        {
          "allele": "T",
          "end": 2061,
          "referenceAllele": "C",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001337612.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563578",
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "referenceAllele": "C",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827563866",
      "coordinates": [
        {
          "allele": "T",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350685.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337614.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337614.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564154",
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350686.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337615.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337615.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564442",
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350687.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337616.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337616.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564730",
      "coordinates": [
        {
          "allele": "T",
          "end": 2044,
          "referenceAllele": "C",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350688.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337617.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337617.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565018",
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350689.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337618.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337618.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565306",
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350690.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337619.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337619.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565594",
      "coordinates": [
        {
          "allele": "T",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "hgvs": [
        "NM_001350691.1:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337620.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_001337620.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565882",
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        {
          "allele": "T",
          "end": 2322,
          "referenceAllele": "C",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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        "NM_001350692.1:c.1498C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001337621.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519575"
    },
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        {
          "allele": "T",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827566458",
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        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "proteinEffect": {
        "hgvs": "NP_001337623.1:p.Gln500Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519577"
    },
    {
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        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "C",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827567034",
      "coordinates": [
        {
          "allele": "T",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519579"
    },
    {
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        {
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          "end": 2340,
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          "start": 2339
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      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829579490",
      "coordinates": [
        {
          "allele": "T",
          "end": 2592,
          "referenceAllele": "C",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425641",
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        {
          "allele": "T",
          "end": 2229,
          "referenceAllele": "C",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.2:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_919436.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "hgvs": [
        "XM_005250666.4:c.1498C>T"
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      "proteinEffect": {
        "hgvs": "XP_005250723.1:p.Gln500Ter",
        "hgvsWellDefined": "XP_005250723.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "referenceAllele": "C",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_006716162.4:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716225.1:p.Gln500Ter",
        "hgvsWellDefined": "XP_006716225.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_011516651.3:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514953.1:p.Gln500Ter",
        "hgvsWellDefined": "XP_011514953.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
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    },
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        {
          "allele": "T",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
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      "geneNCBI_id": 889,
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        "XM_011516654.3:c.1498C>T"
      ],
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    },
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        {
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          "end": 1796,
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    },
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        {
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        }
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        "XM_011516658.3:c.1498C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514960.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
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      "hgvs": [
        "XM_011516659.3:c.1498C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
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        "XM_011516660.3:c.1498C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011514962.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446982.1:c.1498C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024302750.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Gln500Ter",
        "hgvsWellDefined": "XP_024302751.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:p.Gln221Ter",
        "hgvsWellDefined": "XP_024302752.1:p.Gln221_Ser457delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425641",
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "referenceAllele": "C",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Gln500Ter",
        "hgvsWellDefined": "NP_919436.1:p.Gln500_Ser736delinsArgGluThrProGlnLeuPheLeuArgArgAspValArgLeuProLeuGluValGluLysGlnIleGluAspProLeuAlaIleLeuIleLeuPheAspGluAlaArgTyrAsnLeuLeuLysGlyPheTyrThrAlaProAspAlaLysLeuIleThrLeuAlaSerLeuLeuLeuGlnIleValTyrGlyAsnTyrGluSerLysLysHisLysGlnGlyPheLeuAsnGluGluAsnLeuLysSerIleValProValThrLysLeuLysSerLysAlaProHisTrpThrAsnArgIleLeuHisGluTyrLysAsnLeuSerThrSerGluGlyValSerLysGluMetHisHisLeuGlnArgMetPheLeuGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.1498C>T"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.1498C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Gln500Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Gln500Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}