| 基因名 | 突变 |
|---|---|
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52388887C>T,c.3509C>T,p.S1170L |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52387429G>A,c.3260G>A,p.R1087H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52387422C>G,c.3253C>G,p.R1085G |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52387194C>T,c.3103C>T,p.R1035C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52386638G>A,c.2942G>A,p.R981H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52386608G>A,c.2912G>A,p.R971H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52386064G>A,c.2816G>A,p.R939H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52385992A>G,c.2744A>G,p.N915S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52384594A>G,c.2717A>G,p.D906G |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52384527C>T,c.2650C>T,p.R884W |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52384042A>G,c.2564A>G,p.Y855C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52384020C>T,c.2542C>T,p.R848C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52383218C>G,c.2308C>G,p.Q770E |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52383001G>A,c.2204G>A,p.S735N |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52381865A>G,c.1981A>G,p.M661V |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52381853C>G,c.1969C>G,p.P657A |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52381841C>T,c.1957C>T,p.P653S |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52380666G>A,c.1835G>A,p.R612H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52380620C>T,c.1789C>T,p.R597C |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52380590A>C,c.1759A>C,p.N587H |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52378661G>A,c.1442G>A,p.R481Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52378570A>G,c.1351A>G,p.K451E |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52378540G>C,c.1321G>C,p.V441L |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52366368A>G,c.1244A>G,p.K415R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52365245T>G,c.953T>G,p.L318R |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52360318T>C,c.569T>C,p.I190T |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52356703T>A,c.245T>A,p.L82Q |
| DNAH1(NM_015512,dynein, axonemal, heavy chain 1,4265aa) | g.3:52356655C>T,c.197C>T,p.P66L |