| 基因名 | 突变 |
|---|---|
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7637938A>G,c.890A>G,p.K297R |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7637808C>T,c.760C>T,p.R254W |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52430956A>G,c.11683A>G,p.M3895V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52430698A>G,c.11495A>G,p.H3832R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52430526G>A,c.11402G>A,p.G3801D |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52430486G>A,c.11362G>A,p.G3788S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52430472T>C,c.11348T>C,p.I3783T |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52429665C>T,c.11230C>T,p.R3744C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52429588G>A,c.11153G>A,p.R3718H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52429570G>A,c.11135G>A,p.R3712Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52429331A>G,c.10976A>G,p.N3659S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52429325C>G,c.10970C>G,p.T3657R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52429022G>A,c.10915G>A,p.A3639T |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52428518C>T,c.10664C>T,p.S3555L |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52428491G>A,c.10637G>A,p.R3546Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52427365G>A,c.10490G>A,p.R3497H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52427005A>G,c.10438A>G,p.I3480V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52426643G>A,c.10216G>A,p.V3406I |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52426507G>C,c.10080G>C,p.Q3360H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52425568C>T,c.10001C>T,p.T3334M |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52425267C>T,c.9814C>T,p.R3272C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52424967A>G,c.9638A>G,p.N3213S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52420751A>C,c.8885A>C,p.K2962T |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52420315C>T,c.8765C>T,p.A2922V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52418934G>A,c.8455G>A,p.G2819R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52417991G>A,c.8266G>A,p.V2756M |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52416395G>A,c.7865G>A,p.R2622Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52415789A>G,c.7742A>G,p.N2581S |