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. 2016 Jan 30;29:95–102. doi: 10.1007/8904_2015_521

Table 2.

Distribution of specific genotypes representing severe and other non-severe mutations

Severe mutation n = 31 Other mutation n = 16
% Nonsense mutations or deletions % Missense mutations or one unknown
45.2 W402X/W402X 25.0 W402X/A327P
10.0 Q70X/Q70X 6.2 W402X/P533R
23.0 W402X/Q70X 6.2 W402X/S633L
3.1 W402X/R619X 6.2 W402X/T387R
3.1 W402X/R621X 6.2 A75T/A75T
3.1 W402X/Q561X 6.2 L490P/L490P
3.1 W402X/153delC 6.2 P533R/P533R
3.1 W402X/C49delC 6.2 Q70X/G208D
3.1 c.783delC/c.783delC 6.2 Q70X/A75T
3.1 Q70X/35del12 6.2 T388R/W402X
6.2 Int9 2850g>t/A75T
13.0 W402X/unknown