Table 1.
Mutation | Chromosomes (%) | Exon/intron |
---|---|---|
F508del | 88 (50) | 10 |
T338I | 34 (19.31) | 7 |
2183AA>G | 10 (5.68) | 13 |
G542X | 9 (5.11) | 11 |
c.54-5811_164+2186del-8108ins182 | 6 (3.4) | Intron 1/intron 2 |
N1303K | 4 (2.27) | 21 |
G1244E | 3 (1.7) | 20 |
1706del17bp | 2 (1.13) | 10 |
3849+10KbC>T | 2 (1.13) | Intron19 |
991del5bp | 2 (1.13) | 6b |
S912X | 2 (1.13) | 15 |
G576A | 1 (0.57) | 12 |
1717–1G>A | 1 (0.57) | Intron 10 |
621+1G>T | 1 (0.57) | Intron 4 |
G85E | 1 (0.57) | 3 |
L375F | 1 (0.57) | 8 |
4016insT | 1 (0.57) | 21 |
H1054D | 1 (0.57) | 17 |
711+3A>G | 1 (0.57) | Intron 5 |
D1270N − R74W | 1 (0.57) | 20–3 |
2184insA | 1 (0.57) | 13 |
L997F | 1 (0.57) | 17a |
R1066H | 1 (0.57) | 17a |
1001+3A>T | 1 (0.57) | Intron 6b |
Defined | 175 (99.4) | |
Undefined | 1(0.57) | |
Total | 176 (99.97) |
The novel mutation detected in this study is evidenced in bold.