| 基因名 | 突变 |
|---|---|
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27670443G>A,c.4598C>T,p.T1533M |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27669137A>G,c.4745T>C,p.I1582T |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27668816G>A,c.4795C>T,p.R1599C |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27668241G>A,c.4990C>T,p.R1664W |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1652553G>A,c.187C>T,p.R63W |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1652418C>T,c.322G>A,p.V108M |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1642478G>A,c.481C>T,p.P161S |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1642303C>T,c.508G>A,p.A170T |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1638000C>G,c.836G>C,p.R279P |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1637997C>T,c.839G>A,p.R280Q |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1636160C>T,c.1126G>A,p.E376K |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1634385C>T,c.1192G>A,p.V398I |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1634225G>A,c.1352C>T,p.A451V |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1618306C>T,c.1682G>A,p.S561N |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1616201C>T,c.1862G>A,p.R621Q |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1614056G>A,c.2009C>T,p.P670L |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1576655G>A,c.2542C>T,p.R848C |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1576628C>T,c.2569G>A,p.G857S |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1575964C>T,c.2692G>A,p.V898M |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1574615C>T,c.3079G>A,p.G1027R |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1573890G>A,c.3209C>T,p.A1070V |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1573864C>T,c.3235G>A,p.V1079M |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1570721G>A,c.3542C>T,p.S1181L |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1570262A>G,c.3743T>C,p.I1248T |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1569934C>T,c.3988G>A,p.A1330T |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1569929C>G,c.3993G>C,p.Q1331H |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1561060C>T,c.4274G>A,p.R1425Q |
| IFT140(NM_014714,intraflagellar transport 140 homolog (Chlamydomonas),1462aa) | g.16:1561037G>A,c.4297C>T,p.R1433C |