| 基因名 | 突变 |
|---|---|
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21063114C>T,c.4115G>A,p.R1372H |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21051256G>A,c.4648C>T,p.R1550W |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21051209G>C,c.4695C>G,p.I1565M |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21049286C>T,c.4747G>A,p.V1583I |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21049196C>A,c.4837G>T,p.A1613S |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21049142G>A,c.4891C>T,p.R1631W |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21042525C>G,c.5281G>C,p.D1761H |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21042467G>A,c.5339C>T,p.A1780V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21042438T>A,c.5368A>T,p.I1790F |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21042411T>C,c.5395A>G,p.I1799V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21033298A>T,c.5771T>A,p.L1924Q |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21031069T>A,c.5899A>T,p.I1967F |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21031063C>T,c.5905G>A,p.A1969T |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21031053C>T,c.5915G>A,p.R1972K |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21008629C>T,c.6577G>A,p.G2193R |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20999139G>A,c.6758C>T,p.T2253I |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20999070C>T,c.6827G>A,p.R2276Q |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20996959G>A,c.7105C>T,p.P2369S |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20996710C>T,c.7354G>A,p.A2452T |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20996545T>C,c.7519A>G,p.M2507V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20996476T>C,c.7588A>G,p.M2530V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20994236C>T,c.7666G>A,p.V2556I |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20994077C>T,c.7825G>A,p.E2609K |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20990671A>C,c.8057T>G,p.L2686R |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20981303C>G,c.8269G>C,p.E2757Q |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20981162T>C,c.8410A>G,p.I2804V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20976606G>A,c.8600C>T,p.P2867L |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:20976570G>A,c.8636C>T,p.S2879L |