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          "start": 2431
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        "ENST00000534526.6:c.2167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449273.1:p.Gly723Ter",
        "hgvsWellDefined": "ENSP00000449273.1:p.Gly723_Cys903delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000446695.1:p.Gly493_Cys673delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365642"
    },
    {
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        {
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          "end": 1675,
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          "start": 1674
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368981"
    },
    {
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        {
          "allele": "T",
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          "start": 2206
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      ],
      "gene": "http://reg.genome.network/gene/GN019125",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025713"
    },
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        {
          "allele": "T",
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          "start": 2172
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025714"
    },
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        {
          "allele": "T",
          "end": 2397,
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          "start": 2396
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025716"
    },
    {
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        {
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          "referenceAllele": "G",
          "start": 2415
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      ],
      "gene": "http://reg.genome.network/gene/GN019125",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025717"
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          "end": 2297,
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          "start": 2296
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS041032"
    },
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        {
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          "referenceAllele": "G",
          "start": 2419
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS060242"
    },
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        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 2105
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060243"
    },
    {
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        {
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          "start": 2001
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060244"
    },
    {
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        {
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          "referenceAllele": "G",
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "G",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2352,
          "referenceAllele": "G",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
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      "geneSymbol": "FGD4",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011518858.1:p.Gly586Ter",
        "hgvsWellDefined": "XP_011518858.1:p.Gly586_Cys766delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "XM_011520557.1:c.1204G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518859.1:p.Gly402Ter",
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      },
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        {
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          "end": 1177,
          "referenceAllele": "G",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS570653"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582407"
    },
    {
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN019125",
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      "proteinEffect": {
        "hgvs": "NP_001357226.1:p.Gly402Ter",
        "hgvsWellDefined": "NP_001357226.1:p.Gly402_Cys582delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692304"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048372",
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "G",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001370298.1:c.2248G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357227.1:p.Gly750Ter",
        "hgvsWellDefined": "NP_001357227.1:p.Gly750_Cys930delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826893712",
      "coordinates": [
        {
          "allele": "T",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304483.2:c.1012G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291412.1:p.Gly338Ter",
        "hgvsWellDefined": "NP_001291412.1:p.Gly338_His471delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnValSerLysProHisLeuSerGluGlyThrAspAlaLeuGlyGlyLysGlyLysArgValAspSerGlyLeuLysIleCysArgThrArgValGlnAlaValSerLeuPheHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826893848",
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "G",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001304484.2:c.724G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291413.1:p.Gly242Ter",
        "hgvsWellDefined": "NP_001291413.1:p.Gly242_Cys422delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827308214",
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001330373.2:c.1477G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317302.1:p.Gly493Ter",
        "hgvsWellDefined": "NP_001317302.1:p.Gly493_Cys673delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718663"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827308706",
      "coordinates": [
        {
          "allele": "T",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001330374.2:c.1477G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317303.1:p.Gly493Ter",
        "hgvsWellDefined": "NP_001317303.1:p.Gly493_Cys673delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828405604",
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "G",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001370298.3:c.2167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357227.2:p.Gly723Ter",
        "hgvsWellDefined": "NP_001357227.2:p.Gly723_Cys903delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721168",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534526.7:c.2167G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370298.3:c.2167G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449273.1:p.Gly723Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001357227.2:p.Gly723Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573077242",
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "G",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384126.1:c.2167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371055.1:p.Gly723Ter",
        "hgvsWellDefined": "NP_001371055.1:p.Gly723_Asn887delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828933626",
      "coordinates": [
        {
          "allele": "T",
          "end": 2177,
          "referenceAllele": "G",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384127.1:c.1756G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371056.1:p.Gly586Ter",
        "hgvsWellDefined": "NP_001371056.1:p.Gly586_Asn750delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828933993",
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384128.1:c.1756G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371057.1:p.Gly586Ter",
        "hgvsWellDefined": "NP_001371057.1:p.Gly586_Asn750delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGluArgAlaGluArgAsnLysIleArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828934273",
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001384130.1:c.1477G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371059.1:p.Gly493Ter",
        "hgvsWellDefined": "NP_001371059.1:p.Gly493_Cys673delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829012164",
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NM_001385118.1:c.1756G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372047.1:p.Gly586Ter",
        "hgvsWellDefined": "NP_001372047.1:p.Gly586_Cys766delinsTyrValValCysTrpLysCysSerAspTyrLysAlaGlnLeuGluTyrAspGlyGlyLysLeuSerLysValCysLysAspCysTyrGlnIleIleSerGlyPheThrAspSerGluGluLysLysArgLysGlyIleLeuGluIleGluSerAlaGluValSerGlyAsnSerValValCysSerPheLeuGlnTyrMetGluLysSerLysProTrpGlnLysAlaTrpCysValIleProLysGlnAspProLeuValLeuTyrMetTyrGlyAlaProGlnAspValArgAlaGlnAlaThrIleProLeuLeuGlyTyrValValAspGluMetProArgSerAlaAspLeuProHisSerPheLysLeuThrGlnSerLysSerValHisSerPheAlaAlaAspSerGluGluLeuLysGlnLysTrpLeuLysValIleLeuLeuAlaValThrGlyGluThrProGlyGlyProAsnGluHisProAlaThrLeuAspAspHisProGluProLysLysLysSerGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723475"
    }
  ],
  "type": "nucleotide"
}