| 基因名 | 突变 |
|---|---|
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13701536T>C,c.13348A>G,p.I4450V |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13701475G>A,c.13409C>T,p.S4470L |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13701422G>T,c.13462C>A,p.P4488T |
| DNAH5(NM_001369,dynein, axonemal, heavy chain 5,4624aa) | g.5:13692131C>T,c.13837G>A,p.V4613M |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21151913G>T,c.640C>A,p.Q214K |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21139071G>A,c.1145C>T,p.P382L |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21136605C>T,c.1295G>A,p.R432Q |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21133339G>A,c.1511C>T,p.S504F |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21133313G>A,c.1537C>T,p.R513C |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21132148A>G,c.1612T>C,p.F538L |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21128555C>T,c.1783G>A,p.V595I |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21123358C>T,c.1876G>A,p.A626T |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21123315G>A,c.1919C>T,p.T640M |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21123312A>G,c.1920+2T>C,p.640Donor |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21123123C>A,c.1923G>T,p.K641N |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21123100C>A,c.1946G>T,p.R649I |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21115844G>A,c.2314C>T,p.R772W |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21115843C>T,c.2315G>A,p.R772Q |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21098331T>C,c.2716A>G,p.M906V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21098323C>G,c.2724G>C,p.R908S |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21093012C>T,c.2914G>A,p.E972K |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21080809A>G,c.3308T>C,p.I1103T |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21080762A>G,c.3355T>C,p.Y1119H |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21078710C>T,c.3412G>A,p.D1138N |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21073933G>A,c.3590C>T,p.P1197L |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21069423G>A,c.3908C>T,p.A1303V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21065824G>A,c.3956C>T,p.A1319V |
| DNAH3(NM_017539,dynein, axonemal, heavy chain 3,4116aa) | g.16:21063184C>T,c.4045G>A,p.D1349N |