| 基因名 | 突变 |
|---|---|
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76464847G>T,c.8630C>A,p.A2877D |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76464713G>A,c.8764C>T,p.R2922C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76462877C>T,c.8800G>A,p.V2934M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76462826A>T,c.8851T>A,p.C2951S |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76457700T>A,c.9265A>T,p.I3089F |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76456049G>A,c.9470C>T,p.P3157L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76456023C>T,c.9496G>A,p.A3166T |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76456017C>G,c.9502G>C,p.V3168L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76455265C>T,c.9679G>A,p.D3227N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76455195C>T,c.9749G>A,p.R3250H |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76455168G>A,c.9776C>T,p.A3259V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76451830C>T,c.10066G>A,p.V3356I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76447745T>A,c.10540A>T,p.I3514F |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76446843G>A,c.10820C>T,p.S3607L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76446377C>T,c.10999G>A,p.D3667N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76445615C>T,c.11092G>A,p.E3698K |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76445572T>A,c.11135A>T,p.Y3712F |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76445548C>T,c.11159G>A,p.R3720Q |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76445503G>A,c.11204C>T,p.T3735M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76440791G>A,c.11423C>T,p.A3808V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76433931C>T,c.11825G>A,p.R3942Q |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76433899G>A,c.11857C>T,p.H3953Y |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76433898T>C,c.11858A>G,p.H3953R |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76433809T>C,c.11947A>G,p.I3983V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76433769G>A,c.11987C>T,p.T3996M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76425370G>T,c.12237C>A,p.D4079E |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76425273G>A,c.12334C>T,p.R4112W |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76425269G>A,c.12338C>T,p.T4113M |