Table 2. Mutation frequencies and burden effects in probands.
Gene | Mutations | N (%) | p value | ||||
≥90th | ≤10th | C-alpha | CAST | CMC | Fisher's | ||
N sequenced | 171 | 136 | |||||
LIPG | Total | 22 (19.9%) | 3 (2.2%) | 2.7*10−3 | 5.5*10−4 | ||
N396S | 11 (6.4%) | 2 (1.5%) | 0.04 | ||||
R476W | 6 (3.5%) | 1 (0.7%) | 0.14 | ||||
CETP | Total | 1 (0.6%) | 0 (0.0%) | 0.55 | |||
GALNT2 | Total | 4 (2.3%) | 0 (0.0%) | 0.35 | 0.13 | ||
All genes | Total | 25 (14.6%)a | 3 (2.2%) | 2.6*10−3 | 9.9*10−5 | 3.0*10−3 | |
Novel | 8 (4.7%) | 0 (0.0%) | 0.30 | 9.9*10−3 | 0.04 |
, Two probands have rare LIPG+GALNT2 variants.