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 |