| 基因名 | 突变 |
|---|---|
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57431804A>G,c.4064T>C,p.M1355T |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57419497C>T,c.4645G>A,p.D1549N |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57419180G>C,c.4825C>G,p.P1609A |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57415434T>G,c.4979A>C,p.D1660A |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57414499A>C,c.5045T>G,p.L1682X |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57414434A>G,c.5110T>C,p.Y1704H |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57414114T>C,c.5245A>G,p.I1749V |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57414097T>A,c.5262A>T,p.K1754N |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57414071G>A,c.5288C>T,p.T1763I |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57401266C>T,c.5683G>A,p.G1895S |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57401178G>C,c.5771C>G,p.A1924G |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57388120C>G,c.6928G>C,p.D2310H |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57386227C>T,c.6956G>A,p.R2319H |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57368537C>A,c.7330G>T,p.E2444X |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57335909C>T,c.8644G>A,p.V2882I |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57335876C>T,c.8677G>A,p.G2893S |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57327915G>A,c.9173C>T,p.T3058M |
| DNAH12(NM_178504,dynein, axonemal, heavy chain 12,3092aa) | g.3:57327844G>A,c.9244C>T,p.R3082C |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21940868C>T,c.13547C>T,p.A4516V |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21940823A>G,c.13502A>G,p.K4501R |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21940816G>A,c.13495G>A,p.E4499K |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21940720G>A,c.13399G>A,p.V4467M |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21940694C>T,c.13373C>T,p.P4458L |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21940630C>T,c.13309C>T,p.R4437C |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21939649G>A,c.13214G>A,p.R4405H |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21939610C>T,c.13175C>T,p.T4392M |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21934511G>A,c.12943G>A,p.A4315T |
| DNAH11(NM_001277115,dynein, axonemal, heavy chain 11,4516aa) | g.7:21934391A>G,c.12901A>G,p.I4301V |