
| 基因名 | 突变 |
|---|---|
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7674655T>G,c.4370T>G,p.F1457C |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7673930A>G,c.4154A>G,p.Y1385C |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7673605A>G,c.3977A>G,p.E1326G |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7673586C>T,c.3958C>T,p.R1320W |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7671351G>A,c.3809G>A,p.R1270H |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7669761G>A,c.3637G>A,p.E1213K |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7669731C>A,c.3607C>A,p.L1203I |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7667583G>A,c.3328G>A,p.E1110K |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7667554C>T,c.3299C>T,p.A1100V |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7667449C>T,c.3194C>T,p.P1065L |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7667442C>T,c.3187C>T,p.R1063C |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7664154T>C,c.2882T>C,p.M961T |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7663220C>T,c.2749C>T,p.R917C |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7663119C>T,c.2648C>T,p.S883L |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7662852A>T,c.2561A>T,p.D854V |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7662437C>T,c.2443C>T,p.P815S |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7662434G>A,c.2440G>A,p.G814S |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7661877A>C,c.2116A>C,p.K706Q |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7661865C>T,c.2104C>T,p.R702W |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7660549A>G,c.2045A>G,p.Y682C |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7644284C>T,c.1663C>T,p.R555W |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7644167T>C,c.1546T>C,p.Y516H |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7643196G>A,c.1316G>A,p.R439Q |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7643094A>G,c.1214A>G,p.K405R |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7640536A>T,c.1130A>T,p.H377L |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7640532C>T,c.1126C>T,p.P376S |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7640469A>C,c.1063A>C,p.K355Q |
| DNAH2(NM_020877,dynein, axonemal, heavy chain 2,4427aa) | g.17:7637982T>A,c.934T>A,p.S312T |