| 基因名 | 突变 |
|---|---|
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13891206C>G,c.2456G>C,p.R819T |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13891182C>T,c.2480G>A,p.R827H |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13886133C>T,c.2683G>A,p.E895K |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13883101T>A,c.3086A>T,p.D1029V |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13883075C>T,c.3112G>A,p.V1038M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13876869T>A,c.3320A>T,p.Y1107F |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13871757G>T,c.3514C>A,p.Q1172K |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13870977G>A,c.3733C>T,p.R1245C |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13867920A>C,c.4016T>G,p.L1339R |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13865874T>C,c.4258A>G,p.N1420D |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13864729C>T,c.4373G>A,p.R1458Q |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13864660G>A,c.4442C>T,p.P1481L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13862717G>A,c.4736C>T,p.S1579L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13859704G>T,c.4807C>A,p.P1603T |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13859661T>C,c.4850A>G,p.N1617S |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13845040A>G,c.5177T>C,p.L1726P |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13830718G>A,c.6049C>T,p.R2017W |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13830714A>G,c.6053T>C,p.I2018T |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13830187G>A,c.6197C>T,p.T2066I |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13820581G>A,c.6715C>T,p.P2239S |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13817689G>A,c.6956C>T,p.T2319M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13811889C>T,c.7274G>A,p.R2425H |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13811775T>C,c.7388A>G,p.Q2463R |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13807720T>C,c.7867A>G,p.T2623A |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13807706C>T,c.7881G>A,p.M2627I |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13794163G>A,c.7892C>T,p.T2631M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13794057C>A,c.7998G>T,p.E2666D |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13788886C>A,c.8586G>T,p.L2862F |