Table 2 Overall spectrum of identified variants and proportions of mutation types
From: Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Gene | Number | Proportion (%) | Missense | Non-Missense | Propotion of non-Missense (%) |
|---|---|---|---|---|---|
FZD4 | 23 | 38.98 | 16 | 7 | 30.43 |
LRP5 | 18 | 30.51 | 12 | 6 | 33.33 |
TSPAN12 | 9 | 15.25 | 5 | 4 | 44.44 |
NDP | 4 | 6.78 | 4 | 0 | 0.00 |
CTNNB1 | 1 | 1.69 | 1 | 0 | 0.00 |
ZNF408 | 2 | 3.39 | 2 | 0 | 0.00 |
KIF11 | 2 | 3.39 | 0 | 2 | 100.00 |