| 基因名 | 突变 |
|---|---|
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38838204A>G,c.6856A>G,p.S2286G |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38820545G>A,c.5542G>A,p.V1848I |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38820493C>A,c.5490C>A,p.D1830E |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38813412G>T,c.4908G>T,p.E1636D |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38810584G>A,c.4750G>A,p.E1584K |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38810444G>A,c.4610G>A,p.R1537H |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38810443C>T,c.4609C>T,p.R1537C |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38805727G>A,c.4375G>A,p.D1459N |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38800164G>A,c.4255G>A,p.E1419K |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38783329A>G,c.3419A>G,p.H1140R |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38773293G>A,c.3071G>A,p.G1024E |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38770968A>T,c.2915A>T,p.E972V |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38759379G>A,c.2830G>A,p.A944T |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38757615G>A,c.2620G>A,p.V874M |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38754694A>G,c.2549A>G,p.E850G |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38754553C>T,c.2408C>T,p.T803M |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38750903C>T,c.2383C>T,p.Q795X |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38750888A>G,c.2368A>G,p.I790V |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38750810G>A,c.2290G>A,p.G764S |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38747770G>A,c.2068G>A,p.G690R |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38746176G>A,c.1975G>A,p.A659T |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38738337T>C,c.1764+2T>C,p.588Donor |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38729511T>C,c.1549T>C,p.Y517H |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38718258C>T,c.1300C>T,p.R434C |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38704943A>G,c.863A>G,p.N288S |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38704868C>A,c.788C>A,p.A263E |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38702364G>A,c.725G>A,p.R242H |
| DNAH8(NM_001206927,dynein, axonemal, heavy chain 8,4707aa) | g.6:38702363C>T,c.724C>T,p.R242C |