| 基因名 | 突变 |
|---|---|
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52415737G>A,c.7690G>A,p.A2564T |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52415700C>G,c.7653C>G,p.I2551M |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52414027G>A,c.7484G>A,p.R2495H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52414014C>A,c.7471C>A,p.Q2491K |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52413973G>A,c.7430G>A,p.R2477Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52412794G>A,c.7375G>A,p.E2459K |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52410004G>A,c.7193G>A,p.R2398H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52409421A>G,c.7151A>G,p.N2384S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52409413C>G,c.7143C>G,p.I2381M |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52409360C>G,c.7090C>G,p.L2364V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52407042G>A,c.6958G>A,p.G2320S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52406252A>G,c.6676A>G,p.I2226V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52404646G>A,c.6412G>A,p.E2138K |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52404527G>A,c.6293G>A,p.R2098H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52404178A>G,c.6191A>G,p.N2064S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52403850A>G,c.5953A>G,p.M1985V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52400828A>G,c.5690A>G,p.N1897S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52400807G>T,c.5669G>T,p.G1890V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52400538G>A,c.5584G>A,p.G1862R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52398865G>A,c.5348G>A,p.R1783Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52396410C>T,c.4987C>T,p.R1663C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52394055G>A,c.4531G>A,p.V1511M |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52394028G>A,c.4504G>A,p.V1502M |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52393971C>T,c.4447C>T,p.R1483C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52393391C>T,c.4396C>T,p.L1466F |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52390789C>T,c.3853C>T,p.R1285W |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52390772A>G,c.3836A>G,p.K1279R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52388955G>A,c.3577G>A,p.A1193T |