| |
Chinese patients (n = 14)
|
Korean patients (n = 52)
|
Italian patients (n = 73)
|
p1
|
p2
|
|---|
|
Novelty
| | | |
0.395
|
0.591
|
|
Reported
|
8(57.1)
|
36(69.2)
|
36(49.3)
| | |
|
Novel
|
6(42.8)
|
16(30.8)
|
37(50.7)
| | |
|
Single-base mutation
|
6(42.9)
|
30(57.7)
|
49(67.1)
|
0.322
|
0.085
|
|
Nonsense
|
3(21.4)
|
10(19.2)
|
6(8.2)
|
0.854
|
0.137
|
|
Missense
|
3(21.4)
|
20(38.5)
|
43(58.9)
|
0.235
|
0.010*
|
|
Splicing mutation
|
4(28.6)
|
8(15.4)
|
18(24.7)
|
0.256
|
0.758
|
|
Intron
|
1(7.14)
|
/
|
/
|
NA
|
NA
|
|
Frameshift deletion
|
3(21.4)
|
8(15.4)
|
18(24.7)
|
0.590
|
0.796
|
|
Insertion
|
0(0)
|
3(5.8)
|
1(1.4)
|
0.358
|
0.660
|
- Data are presented as n(%)
- *Statistically significant; p1: Chinese versus Korean patients [17]; p2: Chinese versus Italian patients [16]
