| 基因名 | 突变 |
|---|---|
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20966168C>A,c.11038G>T,p.V3680F |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20963832C>T,c.11111G>A,p.R3704K |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20959918G>A,c.11230C>T,p.R3744W |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20959915G>A,c.11233C>T,p.R3745C |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20959830T>C,c.11318A>G,p.Y3773C |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20959821G>A,c.11327C>T,p.P3776L |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20955931C>T,c.11398G>A,p.G3800S |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20952796T>A,c.11581A>T,p.M3861L |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20948167T>C,c.11663A>G,p.K3888R |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20946807C>G,c.11860G>C,p.E3954Q |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20944727T>A,c.12100A>T,p.I4034F |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20944655T>C,c.12172A>G,p.M4058V |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7736480T>A,c.13070T>A,p.V4357D |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7736242C>G,c.12974C>G,p.P4325R |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7735934G>A,c.12764G>A,p.R4255Q |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7735063T>G,c.12696T>G,p.F4232L |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7734476A>T,c.12303A>T,p.L4101F |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7734114A>C,c.12184A>C,p.I4062L |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7733663C>T,c.11899C>T,p.P3967S |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7727595C>T,c.11635C>T,p.R3879W |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7727274G>A,c.11452G>A,p.E3818K |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7726892C>T,c.11275C>T,p.R3759C |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7722663G>A,c.10952G>A,p.R3651H |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7722595C>G,c.10884C>G,p.D3628E |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7722534G>A,c.10823G>A,p.R3608H |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7722365C>T,c.10799C>T,p.T3600I |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7722256G>A,c.10690G>A,p.G3564S |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7721995G>A,c.10571G>A,p.R3524Q |