| Mutation |
Consequence |
Amino acid change |
Reference sequence |
Population |
Articles |
| 154-155ins42nt |
ins of 14 aa |
|
|
Scottish |
15883308 |
| EX1_EX4del |
|
|
AF019562 |
Swedish, Norwegian |
10888890 |
| EX1_EX4del=2 |
|
|
|
Brazilian |
12080485 |
| S38N |
|
S38N |
|
Japanese |
20500450 |
| c.141delG |
frameshift and termination at aa 52 |
|
AF019562 |
Japanese |
10888890 |
| c.145G>C |
|
G49R |
|
Portuguese |
|
| c.262G>T |
|
E87X |
|
Japanese |
17125796 |
| c.2T>C |
|
M1T |
|
Japanese |
12370476 |