| 基因名 | 突变 |
|---|---|
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43913146C>T,c.98G>A,p.R33H |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43905834G>A,c.446C>T,p.T149M |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43897491G>T,c.637C>A,p.Q213K |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43897478A>C,c.650T>G,p.L217W |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43897476C>T,c.652G>A,p.A218T |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43897416C>T,c.712G>A,p.A238T |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43897415G>A,c.713C>T,p.A238V |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43896155C>T,c.730G>A,p.A244T |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43896143C>T,c.742G>A,p.G248R |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43896026G>A,c.859C>T,p.R287C |
| RSPH1(NM_080860,radial spoke head 1 homolog (Chlamydomonas),309aa) | g.21:43892951T>C,c.907A>G,p.R303G |
| RSPH10B(NM_173565,radial spoke head 10 homolog B (Chlamydomonas),870aa) | g.7:6820999G>A,c.1650G>A,p.M550I |
| RSPH10B(NM_173565,radial spoke head 10 homolog B (Chlamydomonas),870aa) | g.7:6820970C>T,c.1621C>T,p.R541C |
| RSPH10B(NM_173565,radial spoke head 10 homolog B (Chlamydomonas),870aa) | g.7:6803602C>T,c.443C>T,p.T148M |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:6006558C>T,c.190G>A,p.V64I |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5983568A>C,c.1583T>G,p.I528S |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5983553A>C,c.1598T>G,p.F533C |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5983079C>T,c.1634G>A,p.R545Q |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5983070T>C,c.1643A>G,p.Y548C |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5983063C>T,c.1650G>A,p.M550I |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5982996C>T,c.1717G>A,p.E573K |
| RSPH10B2(NM_001099697,radial spoke head 10 homolog B2 (Chlamydomonas),870aa) | g.7:5967944G>A,c.2315C>T,p.T772M |
| RSL24D1(NM_016304,ribosomal L24 domain containing 1,163aa) | g.15:55485030A>G,c.83T>C,p.V28A |
| RSL24D1(NM_016304,ribosomal L24 domain containing 1,163aa) | g.15:55484938C>A,c.175G>T,p.A59S |
| RSL1D1(NM_015659,ribosomal L1 domain containing 1,490aa) | g.16:11944247G>A,c.134C>T,p.T45M |
| RSL1D1(NM_015659,ribosomal L1 domain containing 1,490aa) | g.16:11940446C>T,c.547G>A,p.V183I |
| RSL1D1(NM_015659,ribosomal L1 domain containing 1,490aa) | g.16:11935770C>A,c.723G>T,p.L241F |
| RSL1D1(NM_015659,ribosomal L1 domain containing 1,490aa) | g.16:11933743C>A,c.955G>T,p.D319Y |