| 基因名 | 突变 |
|---|---|
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76495095C>T,c.5740G>A,p.V1914M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76491127T>C,c.5956A>G,p.M1986V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76491057T>C,c.6026A>G,p.E2009G |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76490694C>T,c.6251G>A,p.R2084Q |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76490227T>C,c.6299A>G,p.K2100R |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76490147C>T,c.6379G>A,p.V2127I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76488840T>C,c.6416A>G,p.K2139R |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76488831T>C,c.6425A>G,p.N2142S |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76486850G>A,c.6749C>T,p.T2250M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76482550G>A,c.6857C>T,p.S2286L |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76482095G>A,c.7222C>T,p.P2408S |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76482056C>T,c.7261G>A,p.D2421N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76481692C>T,c.7423G>A,p.D2475N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76481652G>A,c.7463C>T,p.T2488M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76481041A>C,c.7558T>G,p.F2520V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76481029T>C,c.7570A>G,p.M2524V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76481027C>T,c.7572G>A,p.M2524I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76480966T>C,c.7633A>G,p.M2545V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76476764A>T,c.7752+2T>A,p.2584Donor |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76475641G>A,c.7826C>T,p.T2609M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76475162G>A,c.7937C>T,p.T2646M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76472767C>T,c.8041G>A,p.V2681I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76472697G>A,c.8111C>T,p.T2704I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76472680T>C,c.8128A>G,p.M2710V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76471808G>C,c.8262C>G,p.N2754K |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76464950G>C,c.8527C>G,p.Q2843E |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76464932C>T,c.8545G>A,p.V2849M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76464916G>A,c.8561C>T,p.S2854L |