| 基因名 | 突变 |
|---|---|
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27062666G>A,c.1735G>A,p.V579M |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27060616C>T,c.1651C>T,p.H551Y |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27056358_27056360del,c.1524_1526del,p.508_509del |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27055736C>T,c.1463C>T,p.P488L |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27048215A>G,c.1276A>G,p.N426D |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27017020T>C,c.905T>C,p.M302T |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27017017C>T,c.902C>T,p.P301L |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:27009100T>C,c.670T>C,p.F224L |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:26990141C>G,c.535C>G,p.Q179E |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:26984277A>G,c.328A>G,p.T110A |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:26978259A>G,c.254A>G,p.K85R |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:26978256C>T,c.251C>T,p.T84M |
| IFT74(NM_001099222,intraflagellar transport 74 homolog (Chlamydomonas),600aa) | g.9:26978170A>G,c.165A>G,p.I55M |
| IFT57(NM_018010,intraflagellar transport 57 homolog (Chlamydomonas),429aa) | g.3:107886661T>G,c.828A>C,p.E276D |
| IFT57(NM_018010,intraflagellar transport 57 homolog (Chlamydomonas),429aa) | g.3:107881495C>A,c.1119G>T,p.L373F |
| IFT57(NM_018010,intraflagellar transport 57 homolog (Chlamydomonas),429aa) | g.3:107881382T>C,c.1232A>G,p.N411S |
| IFT52(NM_016004,intraflagellar transport 52 homolog (Chlamydomonas),437aa) | g.20:42264639A>G,c.997A>G,p.T333A |
| IFT52(NM_016004,intraflagellar transport 52 homolog (Chlamydomonas),437aa) | g.20:42233658G>T,c.430G>T,p.A144S |
| IFT46(NM_020153,intraflagellar transport 46 homolog (Chlamydomonas),355aa) | g.11:118430519C>T,c.26G>A,p.C9Y |
| IFT46(NM_020153,intraflagellar transport 46 homolog (Chlamydomonas),355aa) | g.11:118427727G>A,c.232C>T,p.R78W |
| IFT46(NM_020153,intraflagellar transport 46 homolog (Chlamydomonas),355aa) | g.11:118425790G>A,c.422C>T,p.P141L |
| IFT46(NM_020153,intraflagellar transport 46 homolog (Chlamydomonas),355aa) | g.11:118425758G>C,c.454C>G,p.P152A |
| IFT46(NM_020153,intraflagellar transport 46 homolog (Chlamydomonas),355aa) | g.11:118425757G>A,c.455C>T,p.P152L |
| IFT46(NM_020153,intraflagellar transport 46 homolog (Chlamydomonas),355aa) | g.11:118422566G>A,c.760C>T,p.P254S |
| IFT43(NM_001255995,intraflagellar transport 43 homolog (Chlamydomonas),113aa) | g.14:76488688C>G,c.166C>G,p.P56A |
| IFT43(NM_001255995,intraflagellar transport 43 homolog (Chlamydomonas),113aa) | g.14:76455273G>A,c.100G>A,p.E34K |
| IFT27(NM_001177701,intraflagellar transport 27 homolog (Chlamydomonas),186aa) | g.22:37163864C>T,c.77G>A,p.R26H |
| IFT27(NM_001177701,intraflagellar transport 27 homolog (Chlamydomonas),186aa) | g.22:37163388C>A,c.136G>T,p.V46L |