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  "communityStandardTitle": [
    "NM_000132.4(F8):c.6963_6966dup (p.Arg2323AspfsTer?)"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
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          "referenceAllele": "",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
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          "referenceAllele": "",
          "start": 1976
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS005397"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
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      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
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        },
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            "hgvs": "ENSP00000353393.4:p.Arg2323AspfsTer?"
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          "RefSeq": {
            "hgvs": "NP_000123.1:p.Arg2323AspfsTer?"
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        }
      }
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    {
      "coordinates": [
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000495706.1:p.[Arg234_Tyr235delinsAspSer;Arg237_Gln241delinsProSerAsn;Trp243_Ile247delinsProProGluLeuGly;Leu249_Met251delinsProAspCysPro;Val253_Leu254delinsAspGly;Cys256_Asp260delinsSerGlyLeuArgGlyThrGlyPro;Tyr262Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "TGAC",
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:p.Arg188AspfsTer?",
        "hgvsWellDefined": "ENSP00000327895.6:p.[Arg188_Tyr189delinsAspSer;Arg191_Gln195delinsProSerAsn;Trp197_Ile201delinsProProGluLeuGly;Leu203_Met205delinsProAspCysPro;Val207_Leu208delinsAspGly;Cys210_Asp214delinsSerGlyLeuArgGlyThrGlyPro;Tyr216Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
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          "allele": "TGAC",
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      "gene": "http://reg.genome.network/gene/GN003546",
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      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.6963_6966dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Arg2323AspfsTer?",
        "hgvsWellDefined": "ENSP00000353393.4:p.[Arg2323_Tyr2324delinsAspSer;Arg2326_Gln2330delinsProSerAsn;Trp2332_Ile2336delinsProProGluLeuGly;Leu2338_Met2340delinsProAspCysPro;Val2342_Leu2343delinsAspGly;Cys2345_Asp2349delinsSerGlyLeuArgGlyThrGlyPro;Tyr2351Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "TGAC",
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          "referenceAllele": "",
          "start": 7137
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.6963_6966dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Arg2323AspfsTer?",
        "hgvsWellDefined": "NP_000123.1:p.[Arg2323_Tyr2324delinsAspSer;Arg2326_Gln2330delinsProSerAsn;Trp2332_Ile2336delinsProProGluLeuGly;Leu2338_Met2340delinsProAspCysPro;Val2342_Leu2343delinsAspGly;Cys2345_Asp2349delinsSerGlyLeuArgGlyThrGlyPro;Tyr2351Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "TGAC",
          "end": 706,
          "referenceAllele": "",
          "start": 706
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.558_561dup"
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      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Arg188AspfsTer?",
        "hgvsWellDefined": "NP_063916.1:p.[Arg188_Tyr189delinsAspSer;Arg191_Gln195delinsProSerAsn;Trp197_Ile201delinsProProGluLeuGly;Leu203_Met205delinsProAspCysPro;Val207_Leu208delinsAspGly;Cys210_Asp214delinsSerGlyLeuArgGlyThrGlyPro;Tyr216Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "TGAC",
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.6858_6861dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Arg2288AspfsTer?",
        "hgvsWellDefined": "XP_011529428.1:p.[Arg2288_Tyr2289delinsAspSer;Arg2291_Gln2295delinsProSerAsn;Trp2297_Ile2301delinsProProGluLeuGly;Leu2303_Met2305delinsProAspCysPro;Val2307_Leu2308delinsAspGly;Cys2310_Asp2314delinsSerGlyLeuArgGlyThrGlyPro;Tyr2316Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "TGAC",
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      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.6963_6966dup"
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      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Arg2323AspfsTer?",
        "hgvsWellDefined": "NP_000123.1:p.[Arg2323_Tyr2324delinsAspSer;Arg2326_Gln2330delinsProSerAsn;Trp2332_Ile2336delinsProProGluLeuGly;Leu2338_Met2340delinsProAspCysPro;Val2342_Leu2343delinsAspGly;Cys2345_Asp2349delinsSerGlyLeuArgGlyThrGlyPro;Tyr2351Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NM_000132.4:c.6963_6966dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Arg2323AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Arg2323AspfsTer?"
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        }
      }
    },
    {
      "coordinates": [
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      "hgvs": [
        "NM_019863.3:c.558_561dup"
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      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Arg188AspfsTer?",
        "hgvsWellDefined": "NP_063916.1:p.[Arg188_Tyr189delinsAspSer;Arg191_Gln195delinsProSerAsn;Trp197_Ile201delinsProProGluLeuGly;Leu203_Met205delinsProAspCysPro;Val207_Leu208delinsAspGly;Cys210_Asp214delinsSerGlyLeuArgGlyThrGlyPro;Tyr216Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}