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. 2015 Aug 27;309(8):G688–G694. doi: 10.1152/ajpgi.00241.2015

Table 5.

CPB1 variants identified in German patients with CP

Exon Nucleotide Change Amino Acid Change Genotype Nonalcoholic CP (%) Controls (%) P Value
Nonsynonymous
    3 c.193A>G p.S65G AG 6/497 (1.2) 4/410 (1.0) 1.00
    4 c.329G>A p.R110H GA 0/497 (0) 1/410 (0.2) 0.45
    4 c.359A>G p.N120S AG 1/497 (0.2) 1/410 (0.2) 1.00
    5 c.457G>A p.A153T GA 0/497 (0) 1/410 (0.2) 0.45
    6 c.516C>A p.D172E CA 12/497 (2.4) 4/410 (1.0) 0.13
    7 c.584G>A p.R195H GA 12/497 (2.4) 11/410 (2.7) 0.83
    7 c.622G>A p.D208N GA 160/497 (32.2) 138/410 (33.7) 0.82
AA 24/497 (4.8) 17/410 (4.2)
    8 c.622G>A p.F232L GA 0/497 (0) 1/410 (0.2) 0.45
    9 c.927G>T p.M309I GT 0/497 (0) 1/410 (0.2) 0.45
    11 c.1090G>T p.D364Y GT 1/497 (0.2) 1/410 (0.2) 1.00
    11 c.1207C>G p.L403V CG 0/497 (0) 1/410 (0.2) 0.45
Synonymous
    3 c.192C>T p.H64= CT 2/497 (0.4) 2/410 (0.5) 1.00