| Mutation |
Substitution nucleotide |
Number of Patients |
% |
| p.S549R |
AGT→AGG at 549 |
30 |
65.2 |
| p.∆F508 |
Deletion of Phe at AA 508 |
6 |
13 |
| 3120+1G>A |
G→A- Splice mutation |
4 |
8.7 |
| p.L578delTA |
TA is deleted from CCTAGAT- Frameshift mutation |
2 |
4.3 |
| p.A357T |
Ala→Thr at AA 357 |
1 |
2.2 |
| 3849+10kbC→T |
C→T, 10kb insertion in intron 19 |
1 |
2.2 |
| p.S549R/p.∆F508 |
Heterozygous |
1 |
2.2 |
| p.∆F508/3120+1G>A |
Heterozygous |
1 |
2.2 |
| |
|
46 |
100 |
|
