| 基因名 | 突变 |
|---|---|
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84771455T>G,c.761T>G,p.I254S |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84756049G>A,c.421G>A,p.V141M |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84756035G>A,c.407G>A,p.R136Q |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84745113C>T,c.163C>T,p.H55Y |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13944512A>C,c.36T>G,p.H12Q |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13931340C>T,c.71G>A,p.G24E |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13931323G>A,c.88C>T,p.R30W |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13923445C>T,c.382G>A,p.V128M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13922380G>A,c.496C>T,p.R166C |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13922290G>A,c.586C>T,p.R196C |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13922251C>T,c.625G>A,p.V209I |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13922244G>A,c.632C>T,p.S211L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13919366G>C,c.894C>G,p.N298K |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13919310G>A,c.950C>T,p.A317V |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13919289A>G,c.971T>C,p.L324P |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13916528C>A,c.1126G>T,p.A376S |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13914751C>T,c.1198G>A,p.V400M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13914743A>T,c.1206T>A,p.N402K |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13911508G>A,c.1631C>T,p.T544I |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13902245G>C,c.1647C>G,p.N549K |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13902220T>C,c.1672A>G,p.T558A |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13902177A>C,c.1715T>G,p.L572W |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13901455G>A,c.1958C>T,p.T653M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13901366G>A,c.2047C>T,p.R683W |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13900371C>G,c.2203G>C,p.A735P |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13900321G>T,c.2253C>A,p.N751K |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13894894T>A,c.2296A>T,p.I766L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13891219A>T,c.2443T>A,p.L815M |