| 基因名 | 突变 |
|---|---|
| DNAAF1(NM_178452,dynein, axonemal, assembly factor 1,725aa) | g.16:84179056A>G,c.11A>G,p.E4G |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70231554G>A,c.68C>T,p.A23V |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70229796C>G,c.199G>C,p.V67L |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70196829C>A,c.1585G>T,p.A529S |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70190404T>A,c.1997A>T,p.Y666F |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70190248C>A,c.2153G>T,p.C718F |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70182291C>T,c.2473G>A,p.V825M |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70182061T>C,c.2618A>G,p.Y873C |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70179634G>T,c.2713C>A,p.Q905K |
| DNA2(NM_001080449,DNA replication helicase/nuclease 2,1060aa) | g.10:70179565C>T,c.2782G>A,p.V928I |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51914720G>C,c.23C>G,p.T8S |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51829812G>A,c.1490C>T,p.T497M |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51828947G>A,c.1730C>T,p.T577M |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51828890G>C,c.1787C>G,p.S596C |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51828462T>C,c.2215A>G,p.T739A |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51792313C>A,c.3108G>T,p.E1036D |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51792157C>G,c.3264G>C,p.Q1088H |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51791559A>G,c.3862T>C,p.S1288P |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51790979T>C,c.4442A>G,p.D1481G |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51778412T>A,c.5340A>T,p.Q1780H |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51773327A>T,c.5976T>A,p.D1992E |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51773257C>T,c.6046G>A,p.D2016N |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51770466A>C,c.6833+2T>G,p.2278Donor |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51768854C>T,c.6896G>A,p.R2299H |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51768819C>T,c.6931G>A,p.A2311T |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51763452C>T,c.7360G>A,p.E2454K |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51758447T>C,c.7454A>G,p.D2485G |
| DMXL2(NM_001174116,Dmx-like 2,3037aa) | g.15:51756963T>C,c.7717A>G,p.I2573V |