| 基因名 | 突变 |
|---|---|
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84954845G>A,c.10025G>A,p.R3342H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84940298G>A,c.9458G>A,p.R3153H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84940285C>T,c.9445C>T,p.R3149X |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84940276A>G,c.9436A>G,p.S3146G |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84934671G>A,c.8879G>A,p.R2960H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84932861G>A,c.8717G>A,p.R2906H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84932836G>A,c.8692G>A,p.V2898I |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84932720A>G,c.8576A>G,p.K2859R |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84928353C>T,c.7951C>T,p.R2651C |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84926718G>T,c.7678G>T,p.V2560L |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84924823T>C,c.7649T>C,p.V2550A |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84899498A>T,c.6502A>T,p.M2168L |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84897501A>G,c.6356A>G,p.Y2119C |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84880445G>C,c.5081G>C,p.G1694A |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84848596G>A,c.3992G>A,p.R1331H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84848423G>A,c.3901G>A,p.A1301T |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84848403G>A,c.3881G>A,p.R1294H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84846930A>G,c.3694A>G,p.M1232V |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84846883A>T,c.3647A>T,p.H1216L |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84811183T>C,c.2290T>C,p.Y764H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84806753A>G,c.2179A>G,p.T727A |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84804486G>A,c.2030G>A,p.R677K |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84800673A>G,c.1886A>G,p.E629G |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84780064_84780066del,c.1508_1510del,p.503_504del |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84780043G>C,c.1487G>C,p.G496A |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84777114G>A,c.1418G>A,p.R473Q |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84777111A>G,c.1415A>G,p.K472R |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84777081C>T,c.1385C>T,p.S462L |