| 基因名 | 突变 |
|---|---|
| DNAI2(NM_023036,dynein, axonemal, intermediate chain 2,605aa) | g.17:72306270C>T,c.1462C>T,p.L488F |
| DNAI2(NM_023036,dynein, axonemal, intermediate chain 2,605aa) | g.17:72305444G>A,c.1264G>A,p.V422I |
| DNAI2(NM_023036,dynein, axonemal, intermediate chain 2,605aa) | g.17:72287195C>T,c.647C>T,p.S216L |
| DNAI2(NM_023036,dynein, axonemal, intermediate chain 2,605aa) | g.17:72281191C>T,c.196C>T,p.R66W |
| DNAI2(NM_023036,dynein, axonemal, intermediate chain 2,605aa) | g.17:72278090A>G,c.134A>G,p.N45S |
| DNAI2(NM_023036,dynein, axonemal, intermediate chain 2,605aa) | g.17:72278080G>A,c.124G>A,p.V42M |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34514714G>A,c.1807G>A,p.A603T |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34514426C>A,c.1616C>A,p.T539N |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34512393T>G,c.1472T>G,p.V491G |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34512387C>T,c.1466C>T,p.T489M |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34512350A>G,c.1429A>G,p.I477V |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34506738G>A,c.1189G>A,p.V397M |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34500821G>A,c.1015G>A,p.V339I |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34500796A>C,c.990A>C,p.Q330H |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34500732A>G,c.926A>G,p.Y309C |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34497158C>T,c.874C>T,p.R292W |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34491529A>G,c.670A>G,p.N224D |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34491509C>T,c.650C>T,p.T217M |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34490416A>G,c.563A>G,p.K188R |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34490385G>A,c.532G>A,p.E178K |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34490009G>C,c.400G>C,p.G134R |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34489414C>T,c.355C>T,p.R119W |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34485237C>T,c.179C>T,p.A60V |
| DNAI1(NM_001281428,dynein, axonemal, intermediate chain 1,703aa) | g.9:34459025G>T,c.22G>T,p.A8S |
| DNAH9(NM_001372,dynein, axonemal, heavy chain 9,4486aa) | g.17:11872767T>C,c.13384T>C,p.W4462R |
| DNAH9(NM_001372,dynein, axonemal, heavy chain 9,4486aa) | g.17:11872764G>A,c.13381G>A,p.V4461M |
| DNAH9(NM_001372,dynein, axonemal, heavy chain 9,4486aa) | g.17:11865462G>A,c.13122G>A,p.M4374I |
| DNAH9(NM_001372,dynein, axonemal, heavy chain 9,4486aa) | g.17:11865434G>A,c.13094G>A,p.R4365H |