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      "coordinates": [
        {
          "allele": "",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
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      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.561del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Asn188MetfsTer?",
        "hgvsWellDefined": "NP_003981.3:p.[Asn188Met;Ile190_Leu191delinsSerTrp;Ile193_Lys200delinsPheLeuAlaProMetValArg;Lys202_Val208delinsGlyAsnValMetLysLeuArg;Asp211_Gly217delinsLeuIleLeuProThrLeuGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "NM_000278.5:c.561del"
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      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Asn188MetfsTer?",
        "hgvsWellDefined": "NP_000269.3:p.[Asn188Met;Ile190_Leu191delinsSerTrp;Ile193delinsPheLeuAla;Arg195_Asn197delinsMetValArgArg;Glu199_Arg201delinsAsnValMet;Arg203_Gly210delinsMetCysLeuArgAlaGln;Val212del;Asn214_Ser217delinsMetGluIle]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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        "protein": {
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            "hgvs": "ENSP00000347385.3:p.Asn188MetfsTer?"
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            "hgvs": "NP_000269.3:p.Asn188MetfsTer?"
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        }
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    {
      "coordinates": [
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Asn219MetfsTer?",
        "hgvsWellDefined": "NP_001291498.1:p.[Asn219Met;Ile221_Leu222delinsSerTrp;Ile224delinsPheLeuAla;Arg226_Asn228delinsMetValArgArg;Glu230_Arg232delinsAsnValMet;Arg234_Gly241delinsMetCysLeuArgAlaGln;Val243del;Asn245_Ser248delinsMetGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN008616",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Asn188MetfsTer?",
        "hgvsWellDefined": "NP_003978.3:p.[Asn188Met;Ile190_Leu191delinsSerTrp;Ile193_Lys200delinsPheLeuAlaProMetValArg;Lys202_Val208delinsGlyAsnValMetLysLeuArg;Asp211_Gly217delinsLeuIleLeuProThrLeuGlu]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
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    {
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      "gene": "http://reg.genome.network/gene/GN008616",
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      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.561del"
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      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Asn188MetfsTer?",
        "hgvsWellDefined": "NP_003979.2:p.[Asn188Met;Ile190_Leu191delinsSerTrp;Ile193delinsPheLeuAla;Arg195_Asn197delinsMetValArgArg;Glu199_Arg201delinsAsnValMet;Arg203_Gly210delinsMetCysLeuArgAlaGln;Val212del;Asn214_Ser217delinsMetGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.561del"
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      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Asn188MetfsTer?",
        "hgvsWellDefined": "NP_003980.3:p.[Asn188Met;Ile190_Leu191delinsSerTrp;Ile193delinsPheLeuAla;Arg195_Asn197delinsMetValArgArg;Glu199_Arg201delinsAsnValMet;Arg203_Gly210delinsMetCysLeuArgAlaGln;Val212del;Asn214_Ser217delinsMetGluIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
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      "geneSymbol": "PAX2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Asn188MetfsTer?",
        "hgvsWellDefined": "NP_003981.3:p.[Asn188Met;Ile190_Leu191delinsSerTrp;Ile193_Lys200delinsPheLeuAlaProMetValArg;Lys202_Val208delinsGlyAsnValMetLysLeuArg;Asp211_Gly217delinsLeuIleLeuProThrLeuGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}