Mutation frequency in 100 patients genotyped
| Mutation | Frequency (%) |
| R408W | 57 (28.5) |
| I65T | 42 (21.0) |
| F39L | 17 (8.5) |
| Y414C | 12 (6.0) |
| L348V, R408Q | 10 (5.0)2-150 |
| F299C | 9 (4.5) |
| R243X, IVS12nt1 | 5 (2.5)2-150 |
| G46S | 4 (2.0) |
| E280K, S67P, T380M | 3 (1.5)2-150 |
| L249F, L333F, R241L, R252W, R243Q | 2 (1.0)2-150 |
| S273F, A309V, IVSIOnt546, R158Q, A309D, IVS10nt554, A300V, R261Q, S349P, unidentified | 1 (0.5)2-150 |
↵2-150 Frequency for each mutation in this group.