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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533340.1:p.[Lys4325_Gln4333delinsSerAspIleCysGlyGly;Trp4335_Glu4339delinsSerMetGluAla;Glu4341del;Lys4343_Lys4344del;Ile4346_Leu4351delinsGlyThrLys;Trp4353_Asp4356delinsAspTyr]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
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          "referenceAllele": "GAAAA",
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      "gene": "http://reg.genome.network/gene/GN010519",
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      "geneSymbol": "SACS",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Lys4314SerfsTer21",
        "hgvsWellDefined": "XP_011533341.1:p.[Lys4314_Gln4322delinsSerAspIleCysGlyGly;Trp4324_Glu4328delinsSerMetGluAla;Glu4330del;Lys4332_Lys4333del;Ile4335_Leu4340delinsGlyThrLys;Trp4342_Asp4345delinsAspTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
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      "geneSymbol": "SACS",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Lys4317SerfsTer21",
        "hgvsWellDefined": "XP_005266395.1:p.[Lys4317_Gln4325delinsSerAspIleCysGlyGly;Trp4327_Glu4331delinsSerMetGluAla;Glu4333del;Lys4335_Lys4336del;Ile4338_Leu4343delinsGlyThrLys;Trp4345_Asp4348delinsAspTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
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    {
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      "gene": "http://reg.genome.network/gene/GN010519",
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      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.12941_12945del"
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      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Lys4314SerfsTer21",
        "hgvsWellDefined": "XP_011533341.1:p.[Lys4314_Gln4322delinsSerAspIleCysGlyGly;Trp4324_Glu4328delinsSerMetGluAla;Glu4330del;Lys4332_Lys4333del;Ile4335_Leu4340delinsGlyThrLys;Trp4342_Asp4345delinsAspTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
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          "referenceAllele": "GAAAA",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.12914_12918del"
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      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Lys4305SerfsTer21",
        "hgvsWellDefined": "XP_016876028.1:p.[Lys4305_Gln4313delinsSerAspIleCysGlyGly;Trp4315_Glu4319delinsSerMetGluAla;Glu4321del;Lys4323_Lys4324del;Ile4326_Leu4331delinsGlyThrLys;Trp4333_Asp4336delinsAspTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
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      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.12950_12954del"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024305105.1:p.[Lys4317_Gln4325delinsSerAspIleCysGlyGly;Trp4327_Glu4331delinsSerMetGluAla;Glu4333del;Lys4335_Lys4336del;Ile4338_Leu4343delinsGlyThrLys;Trp4345_Asp4348delinsAspTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
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          "referenceAllele": "GAAAA",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.12923_12927del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Lys4308SerfsTer21",
        "hgvsWellDefined": "NP_055178.3:p.[Lys4308_Gln4316delinsSerAspIleCysGlyGly;Trp4318_Glu4322delinsSerMetGluAla;Glu4324del;Lys4326_Lys4327del;Ile4329_Leu4334delinsGlyThrLys;Trp4336_Asp4339delinsAspTyr]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.12923_12927del"
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          "Ensembl": {
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    {
      "coordinates": [
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      "geneSymbol": "SACS",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Lys4161SerfsTer21",
        "hgvsWellDefined": "NP_001264984.1:p.[Lys4161_Gln4169delinsSerAspIleCysGlyGly;Trp4171_Glu4175delinsSerMetGluAla;Glu4177del;Lys4179_Lys4180del;Ile4182_Leu4187delinsGlyThrLys;Trp4189_Asp4192delinsAspTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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  "type": "nucleotide"
}