| 基因名 | 突变 |
|---|---|
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55672513C>T,c.670G>A,p.A224T |
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55672470T>C,c.713A>G,p.E238G |
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55672055A>G,c.839T>C,p.L280P |
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55671337C>T,c.931G>A,p.D311N |
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55670800C>T,c.1094G>A,p.R365Q |
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55670771G>A,c.1123C>T,p.R375W |
| DNAAF3(NM_001256716,dynein, axonemal, assembly factor 3,487aa) | g.19:55670642C>T,c.1252G>A,p.G418R |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50101682C>G,c.186G>C,p.E62D |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50101161G>A,c.707C>T,p.P236L |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100519C>A,c.1349G>T,p.S450I |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100463A>T,c.1405T>A,p.C469S |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100462C>T,c.1406G>A,p.C469Y |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100451G>A,c.1417C>T,p.R473W |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100405C>T,c.1463G>A,p.G488E |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100284A>T,c.1584T>A,p.N528K |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100273T>C,c.1595A>G,p.E532G |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100181C>A,c.1687G>T,p.A563S |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50100087G>A,c.1781C>T,p.A594V |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50092598T>C,c.2176A>G,p.T726A |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50092471T>C,c.2303A>G,p.D768G |
| DNAAF2(NM_018139,dynein, axonemal, assembly factor 2,837aa) | g.14:50092393G>A,c.2381C>T,p.T794M |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84211424T>C,c.2155T>C,p.F719L |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84211407C>A,c.2138C>A,p.T713K |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84211403C>G,c.2134C>G,p.P712A |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84211376G>A,c.2107G>A,p.G703R |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84209897C>G,c.2057C>G,p.S686C |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84209864G>C,c.2024G>C,p.S675T |
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84209816T>C,c.1976T>C,p.L659P |