| 基因名 | 突变 |
|---|---|
| IFT27(NM_001177701,intraflagellar transport 27 homolog (Chlamydomonas),186aa) | g.22:37159993G>A,c.322C>T,p.R108W |
| IFT27(NM_001177701,intraflagellar transport 27 homolog (Chlamydomonas),186aa) | g.22:37159025C>T,c.385G>A,p.G129S |
| IFT20(NM_001267774,intraflagellar transport 20 homolog (Chlamydomonas),158aa) | g.17:26657491T>G,c.269A>C,p.E90A |
| IFT20(NM_001267774,intraflagellar transport 20 homolog (Chlamydomonas),158aa) | g.17:26656299T>C,c.295A>G,p.I99V |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27708265G>A,c.145C>T,p.R49W |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27708264C>T,c.146G>A,p.R49Q |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27707934T>C,c.247A>G,p.I83V |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27706486A>G,c.443T>C,p.I148T |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27706480C>G,c.449G>C,p.G150A |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27704108G>A,c.590C>T,p.P197L |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27702925C>T,c.877G>A,p.A293T |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27700887_27700888insC,c.1141_1142insG,p.381fs |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27695208T>A,c.1433A>T,p.N478I |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27695182G>A,c.1459C>T,p.R487C |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27693802G>C,c.1685C>G,p.T562S |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27686013C>T,c.1973G>A,p.R658Q |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27685971C>T,c.2015G>A,p.R672Q |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27684360G>A,c.2218C>T,p.R740C |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27684314C>T,c.2264G>A,p.R755Q |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27682364C>T,c.2668G>A,p.A890T |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27682309C>T,c.2723G>A,p.R908Q |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27681665C>T,c.2858G>A,p.R953H |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27681005C>T,c.2963G>A,p.R988H |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27680746G>C,c.3073C>G,p.P1025A |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27679481C>T,c.3268G>A,p.V1090M |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27679381T>C,c.3368A>G,p.N1123S |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27672926C>T,c.3989G>A,p.R1330H |
| IFT172(NM_015662,intraflagellar transport 172 homolog (Chlamydomonas),1749aa) | g.2:27671802C>T,c.4408G>A,p.G1470R |