| 基因名 | 突变 |
|---|---|
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13786351C>G,c.8757G>C,p.E2919D |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13781053G>A,c.8836C>T,p.R2946C |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13781044G>C,c.8845C>G,p.Q2949E |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13776691C>T,c.9230G>A,p.R3077Q |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13771081G>A,c.9382C>T,p.H3128Y |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13769653G>A,c.9677C>T,p.A3226V |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13769185T>C,c.9781A>G,p.K3261E |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13766275G>A,c.9911C>T,p.S3304L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13766164A>G,c.10022T>C,p.L3341P |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13762920G>A,c.10192C>T,p.R3398C |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13759007G>A,c.10367C>T,p.A3456V |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13754425C>T,c.10442G>A,p.R3481Q |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13754410A>G,c.10457T>C,p.M3486T |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13752394G>A,c.10877C>T,p.T3626M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13737466C>T,c.11350G>A,p.V3784M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13737444G>A,c.11372C>T,p.T3791I |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13737379G>A,c.11437C>T,p.R3813W |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13735969G>A,c.11528C>T,p.S3843L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13721284G>A,c.12104C>T,p.T4035M |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13719123G>A,c.12367C>T,p.H4123Y |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13719089G>A,c.12401C>T,p.A4134V |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13719018G>A,c.12472C>T,p.R4158W |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13719017C>T,c.12473G>A,p.R4158Q |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13717471T>C,c.12658A>G,p.T4220A |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13716778G>A,c.12727C>T,p.R4243C |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13716648C>T,c.12857G>A,p.G4286E |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13714566C>T,c.13073G>A,p.R4358Q |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13708284C>T,c.13286G>A,p.R4429Q |