
| 基因名 | 突变 |
|---|---|
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38702357C>T,c.718C>T,p.R240C |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38697703C>T,c.551C>T,p.A184V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196922836T>A,c.20A>T,p.K7I |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196912179G>C,c.295C>G,p.Q99E |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196912113G>A,c.361C>T,p.R121X |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196892746C>T,c.424G>A,p.A142T |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196892701T>C,c.469A>G,p.I157V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196892695T>C,c.475A>G,p.K159E |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196891613T>C,c.538A>G,p.M180V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196889160G>A,c.736C>T,p.R246C |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196883925C>T,c.838G>A,p.A280T |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196877557T>C,c.943A>G,p.I315V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196866433A>C,c.1139T>G,p.M380R |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196865507A>G,c.1274T>C,p.I425T |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196852887C>T,c.1420G>A,p.E474K |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196852767C>T,c.1540G>A,p.A514T |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196851911G>A,c.1633C>T,p.R545C |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196851910C>T,c.1634G>A,p.R545H |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196851900C>T,c.1644G>A,p.M548I |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196851841C>T,c.1703G>A,p.C568Y |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196837129G>C,c.1895C>G,p.S632C |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196837093T>C,c.1931A>G,p.N644S |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196834805C>T,c.2072G>A,p.R691Q |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196825402T>C,c.2473A>G,p.K825E |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196825359G>C,c.2516C>G,p.P839R |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196825238C>A,c.2637G>T,p.M879I |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196822063C>T,c.3000G>A,p.M1000I |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196822004A>G,c.3059T>C,p.I1020T |