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    Detailed info

    Owner: sevilla_lab Position: exon 8 HAEUID: 201
    Nucleotide change Protein change
    Traditional: 16788delC Traditional: Frameshift
    HUGO: g.17970delC HUGO: p.Arg466fs
    CDS: c.1396delC Effect: pathogenic
    Reference: Unpublished sequence variation
    Family history: sporadic (negative) No. of cases: 1
    Notes: ND

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