|
TYPE OF MUTATION |
MUTATION FREQUENCY (%) |
NO. OF PATIENTS |
COMMON MUTATIONS |
|
|
|
IVS 1-5 (G-C) |
41.94 |
104 |
|
619 bp |
18.55 |
46 |
|
FS 41-42 (-CTTT) |
6.45 |
16 |
|
FS 8-9 (+G) |
6.05 |
15 |
|
IVS 1-1 (G-T) |
5.24 |
13 |
RARE MUTATIONS |
|
|
|
cd 5 (-CT) |
6.05 |
15 |
|
cd 15 (G-A) |
5.65 |
14 |
|
IVS 1-1 (G-A) |
2.42 |
6 |
|
FS 16 (-C) |
2.02 |
5 |
|
cd 30 (G-C) |
1.61 |
4 |
|
cd 30 (G-A) |
0.81 |
2 |
|
IVS 1-1 (G-C) |
0.4 |
1 |
|
IVS 1-5 (G-T) |
0.4 |
1 |
|
IVS 1-128(T-G) |
0.4 |
1 |
|
cap +1 (A-C) |
0.4 |
1 |
|
UNKNOWN MUTATION |
1.21 |
3 |
|
UNIDENTIFIED MUTATION |
0.4 |
1 |
|
TOTAL |
100 |
248 |