2 | E61X | c.181G>T | Nonsense | LWS | New |
3 | Q112P | c.335A>C | Missense | ISS | New |
3 | K116E | c.346A>G | Missense | ISS | New |
3 |
L132V
| c.394C>G | Missense | LWS | Grigelioniene et al 200039 |
Schneider et al 200529 |
3 |
Y141D
| c.421T>G | Missense | ISS | Schneider et al 200529 |
3 |
E148X
| c.442G>T | Nonsense | LWS | New |
4 |
W164X
| c.492G>A | Nonsense | ISS | New |
4 |
R168W
| c.502C>T | Missense | ISS | Schneider et al 200529 |
4 |
R168L
| c.503G>T | Missense | ISS | New |
4 |
A170P
| c.508G>C | Missense | ISS | Schneider et al 200529 |
Sabherwal et al 200430 |
4 |
R173H
| c.518G>A | Missense | LWS | Schneider et al 200529 |
Binder et al 200310 |
5 | R195X | c.583C>T | Nonsense | LWS | Rao et al 19975 |
Ross et al 200538 |
5 | R195X | c.583C>T | Nonsense | LWS | Rao et al 19975 |
Ross et al 200538 |
6a | insH229-L232 | c.685-696insCAC CCGCACCTG | Duplication | ISS | New |
6b | X226R | c.676T>C | Missense | ISS | Ross et al 200538 |
6b | X226R | c.676T>C | Missense | LWS | Ross et al 200538 |