| 基因名 | 突变 |
|---|---|
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76571121C>T,c.19G>A,p.V7I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76571043C>T,c.97G>A,p.A33T |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76568872A>C,c.450T>G,p.F150L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76568823G>A,c.499C>T,p.H167Y |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76567707T>C,c.697A>G,p.T233A |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76567414G>A,c.779C>T,p.A260V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76567372T>C,c.821A>G,p.N274S |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76567034G>A,c.914C>T,p.T305M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76566378G>A,c.995C>T,p.A332V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76563191C>T,c.1342G>A,p.V448M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76563116C>T,c.1417G>A,p.D473N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76562761T>C,c.1504A>G,p.R502G |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76557929G>A,c.1703C>T,p.A568V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76557879C>T,c.1753G>A,p.V585M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76556982T>C,c.1871A>G,p.Q624R |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76556823G>A,c.2030C>T,p.A677V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76548866C>T,c.2200G>A,p.V734I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76548839G>C,c.2227C>G,p.L743V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76548802G>A,c.2264C>T,p.T755M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76547634T>C,c.2374A>G,p.I792V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76540072G>A,c.2399C>T,p.S800L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76540063G>A,c.2408C>T,p.P803L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76535932G>C,c.2563C>G,p.L855V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76533476G>A,c.2764C>T,p.R922C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76533410G>A,c.2830C>T,p.R944W |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76528790A>G,c.2888T>C,p.I963T |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76528622G>T,c.3056C>A,p.T1019N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76528592G>A,c.3086C>T,p.P1029L |