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    Detailed info

    Owner: Wuerzburg Position: exon 8 HAEUID: 233
    Nucleotide change Protein change
    Traditional: 16734G>C Traditional: Glu426Gln
    HUGO: g. HUGO: p.Glu448Gln
    CDS: c.1342G>C Effect: unknown
    Reference: G÷▀wein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
    Family history: positive No. of cases: 0
    Notes: 4 members of 1 familiy, they have all another mutation Cys406Arg on the same allele

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