Table 2.
Comparison between the results obtained in this study and those obtained in a previous study
| 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 |