Castaldo et al.[14] | Mutations observed in the present study | |
---|---|---|
F508del | 55.8% (29) | 48.62% (141) |
N1303K | 3.8% (2) | 9.31% (27) |
G542X | 3.8% (2) | 8.96% (26) |
W1282X | 3.8% (2) | 1.03% (3) |
2183AA>G | 5.8% (3) | 2.76% (8) |
R1162X | 0 | 0 |
1717-1G>A | 1.9% (1) | 0 |
T338I | 0 | 0 |
R347P | 0 | 0.69% (2) |
711+5G>A | 0 | 0 |
852del22 | 5.8% (3) | 1.03% (3) |
4382delA | 0 | 0.69% (2) |
1259insA | 0 | 0.34% (1) |
4016insT | 0 | 0.34% (1) |
R553X | 0 | 0.34% (1) |
R1158X | 0 | 0 |
L1077P | 0 | 1.03% (3) |
I502T | 0 | 0 |
3849+10kbC>T | 1.9% (1) | 0.34% (1) |
D579G | 0 | 0.69% (2) |
G1244E | 3.8% (2) | 0 |
G1349D | 0 | 0.34% (1) |
2789+5G>A | 0 | 1.03% (3) |
711+1G>T | 0 | 0 |
L1065P | 0 | 0 |
2522insC | 0 | 0 |
E585X | 0 | 0 |
G85E | 0 | 0 |
G178R | 0 | 0 |
D1152H | 0 | 3.10% (9) |
I148T-3195del6 | 0 | 0 |
I148T (alone) | 0 | 4.48% (13) |
R334W | 0 | 0 |
DI507 | 0 | 0.69% (2) |
I1005R | 0 | 0 |
3272-26A>G | 0 | 0 |
2711delT | 0 | 0 |
L558S | 1.9% (1) | 0.34% (1) |
W1063X | 0 | 0 |
D110H | 0 | 0 |
S549R (A>C) | 1.9% (1) | 0.69% (2) |
2184insA | 0 | 0 |
3131del22 | 0 | 0 |
R709N | 0 | 0 |
A349V | 0 | 0 |
4015insA | 0 | 0 |
Y849X | 1.9% (1) | 0.34% (1) |
G551D | 0 | 1.03% (3) |
621+3A>G | 0 | 0.34% (1) |
E831X | 0 | 0 |
I507del | 0 | 0.69% (2) |
IVS8 TG12/t5 | 0 | 1.03% (3) |
H139R (A->G) | 0 | 0.34% (1) |
1248+1G>A | 0 | 0.34% (1) |
R74W;V201M;D1270N | 0 | 0.69% (2) |
S1455X | 0 | 0.34% (1) |
dele 2,3 (21kb) | 0 | 0.34% (1) |
991del5 | 0 | 0.34% (1) |
UNKNOWN | 7 %(4) | 4.83% (14) |
F508C | 0 | 0.69% (2) |
TOTAL | 52 | 290 |