| 基因名 | 突变 |
|---|---|
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71052302T>A,c.3374A>T,p.K1125M |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71026076C>G,c.3682G>C,p.V1228L |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71015341T>C,c.4463A>G,p.E1488G |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71015329G>T,c.4475C>A,p.P1492H |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71012855T>C,c.4600A>G,p.I1534V |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71009054C>T,c.4757G>A,p.R1586H |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71007809C>T,c.5152G>A,p.V1718M |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71007323C>T,c.5302G>A,p.E1768K |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71007312del,c.5313del,p.1771fs |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71004596G>A,c.5446C>T,p.R1816C |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71004595C>A,c.5447G>T,p.R1816L |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70995975C>T,c.5855G>A,p.R1952Q |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70993639C>T,c.6053G>A,p.R2018H |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70993553A>T,c.6139T>A,p.S2047T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70989335G>A,c.6259C>T,p.R2087C |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70989299C>T,c.6295G>A,p.V2099M |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70986520C>A,c.6335G>T,p.G2112V |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70986457A>G,c.6398T>C,p.M2133T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70986425T>C,c.6430A>G,p.K2144E |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70977833G>A,c.6551C>T,p.P2184L |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70977827C>G,c.6557G>C,p.G2186A |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70975667T>C,c.6725A>G,p.Q2242R |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70975565T>C,c.6827A>G,p.Q2276R |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70972620G>C,c.6892C>G,p.R2298G |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70972595T>C,c.6917A>G,p.E2306G |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70954945T>A,c.7334A>T,p.N2445I |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70954915G>T,c.7364C>A,p.P2455Q |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70954796C>T,c.7483G>A,p.D2495N |