| 基因名 | 突变 |
|---|---|
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196720705T>C,c.8425A>G,p.I2809V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196718225G>A,c.8623C>T,p.R2875X |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196699007T>C,c.9023A>G,p.N3008S |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196689134T>C,c.9136A>G,p.I3046V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196682510T>C,c.9335A>G,p.D3112G |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196681502C>T,c.9611G>A,p.R3204H |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196681435C>T,c.9678G>A,p.M3226I |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196673555G>C,c.9934C>G,p.L3312V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196673533A>G,c.9956T>C,p.L3319P |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196673456T>C,c.10033A>G,p.R3345G |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196671483C>T,c.10157G>A,p.R3386H |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196661443G>A,c.10372C>T,p.L3458F |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196659205A>T,c.10573T>A,p.S3525T |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196659081A>G,c.10697T>C,p.F3566S |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196642682T>C,c.10906A>G,p.M3636V |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196636611G>A,c.11206C>T,p.R3736C |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196636407C>T,c.11410G>A,p.V3804I |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196619105T>C,c.11720A>G,p.Y3907C |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196602786A>T,c.11934T>A,p.Y3978X |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196602773G>A,c.11947C>T,p.R3983W |
| DNAH7(NM_018897,dynein, axonemal, heavy chain 7,4024aa) | g.2:196602679C>T,c.12041G>A,p.R4014Q |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:85046474G>A,c.12419G>A,p.R4140Q |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:85046455G>A,c.12400G>A,p.V4134I |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:85043186G>A,c.12352G>A,p.A4118T |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:85041125A>G,c.12029A>G,p.N4010S |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:85032868A>G,c.11561A>G,p.N3854S |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:85012762G>A,c.10982G>A,p.R3661H |
| DNAH6(NM_001370,dynein, axonemal, heavy chain 6,4158aa) | g.2:84960658G>A,c.10297G>A,p.G3433R |