| 基因名 | 突变 |
|---|---|
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76424706A>C,c.12488T>G,p.F4163C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76423180C>T,c.12598G>A,p.V4200M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76423042G>A,c.12736C>T,p.R4246C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76422599C>T,c.12854G>A,p.R4285Q |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76421626A>C,c.12942T>G,p.F4314L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76420202C>T,c.13174G>A,p.A4392T |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76420193G>A,c.13183C>T,p.R4395W |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76420133G>A,c.13243C>T,p.R4415C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76420100C>T,c.13276G>A,p.V4426M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76420087C>T,c.13289G>A,p.R4430H |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76420085T>C,c.13291A>G,p.I4431V |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225586971A>T,c.13548A>T,p.X4516Y |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225586901C>A,c.13478C>A,p.S4493X |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225586784A>G,c.13361A>G,p.N4454S |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225586274G>T,c.13238G>T,p.G4413V |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225580109G>A,c.13141G>A,p.V4381I |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225580093G>C,c.13125G>C,p.K4375N |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225577462A>G,c.12911A>G,p.K4304R |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225576087G>A,c.12778G>A,p.A4260T |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225569241T>G,c.12731T>G,p.F4244C |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225569141C>T,c.12631C>T,p.R4211X |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225567979A>G,c.12529A>G,p.M4177V |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225565015T>C,c.12287T>C,p.L4096P |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225555602T>G,c.11907T>G,p.N3969K |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225539508C>G,c.11177C>G,p.A3726G |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225539363G>A,c.11032G>A,p.G3678S |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225534348G>A,c.11009G>A,p.R3670K |
| DNAH14(NM_001373,dynein, axonemal, heavy chain 14,4515aa) | g.1:225534324T>C,c.10985T>C,p.I3662T |