Table 3.
List of 60 mutations in the cystic fibrosis transmembrane regulator gene (specificity 100%)
| F508del |
I507del |
F508C |
621+1G>T |
D110H |
E585X |
G1349D |
| I502T |
1706del17 |
1677delTA |
R117H |
H139R |
1898+1G>A |
4015delA |
| G542X |
1717-1G>A |
Q552X |
852del22 |
G178R |
1898+3A>G |
|
| G551D |
S549R(A>C) |
2183AA>G |
T338I |
991del5 |
1898+5G>T |
|
| N1303K |
4016insT |
3849+10kb C>T |
R347P |
R334W |
2184insA |
|
| G85E |
711+5G>A |
711+1G>T |
1259insA |
R347H |
2522insC |
|
| 2789+5G>A |
W1282X |
G1244E |
R1066H |
R352Q |
3120+1G>A |
|
| I148T |
3199del6 |
S912X |
R1158X |
1717-8G>A |
R1066C |
|
| R1162X |
4382delA |
D1152H |
L1077P |
D579G |
3272-26A>G |
|
| L1065P | R553X | PoliT: 5T, 7T, 9T | 1874insT | 3659delC | ||