| 基因名 | 突变 |
|---|---|
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76526435C>T,c.3274G>A,p.V1092I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76525759G>C,c.3302C>G,p.A1101G |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76525671C>T,c.3390G>A,p.M1130I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76525592C>T,c.3469G>A,p.G1157R |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76522985G>A,c.3601C>T,p.R1201W |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76522785C>T,c.3659G>A,p.R1220H |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76521203G>A,c.3752C>T,p.A1251V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76521134C>T,c.3821G>A,p.R1274Q |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76511089C>T,c.3880G>A,p.E1294K |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76511038T>C,c.3931A>G,p.I1311V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76510974G>A,c.3995C>T,p.A1332V |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76510969C>T,c.4000G>A,p.V1334M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76510951C>T,c.4018G>A,p.V1340M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76510888G>A,c.4081C>T,p.R1361C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503831G>T,c.4293C>A,p.H1431Q |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503781G>A,c.4343C>T,p.T1448M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503605C>T,c.4519G>A,p.E1507K |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503593T>C,c.4531A>G,p.T1511A |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503569G>A,c.4555C>T,p.R1519C |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503568C>T,c.4556G>A,p.R1519H |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76503560C>A,c.4564G>T,p.D1522Y |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76499039C>T,c.5011G>A,p.E1671K |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76498692C>T,c.5171G>A,p.R1724K |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76497940C>T,c.5206G>A,p.V1736I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76497920C>A,c.5226G>T,p.M1742I |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76497901C>T,c.5245G>A,p.D1749N |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76497832C>T,c.5314G>A,p.V1772M |
| DNAH17(NM_173628,dynein, axonemal, heavy chain 17,4462aa) | g.17:76497381G>A,c.5368C>T,p.R1790C |