| 基因名 | 突变 |
|---|---|
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32673360G>T,c.1318G>T,p.D440Y |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32673184G>A,c.1142G>A,p.G381E |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32673136C>T,c.1094C>T,p.S365L |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32672932G>A,c.890G>A,p.C297Y |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32672908T>G,c.866T>G,p.F289C |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32671421C>G,c.139C>G,p.P47A |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32671307A>G,c.25A>G,p.K9E |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32671284T>G,c.2T>G,p.M1R |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121527826A>G,c.424T>C,p.F142L |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121518131T>C,c.678A>G,p.I226M |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121516065C>T,c.776G>A,p.R259H |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121516059A>C,c.782T>G,p.L261R |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121514379T>C,c.911A>G,p.Y304C |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121507231A>T,c.1178T>A,p.I393N |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121500699C>T,c.1301G>A,p.C434Y |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121500697G>A,c.1303C>T,p.R435C |
| IQCB1(NM_001023570,IQ motif containing B1,598aa) | g.3:121491422T>A,c.1549A>T,p.N517Y |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237406113C>T,c.29G>A,p.W10X |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237406078C>T,c.64G>A,p.D22N |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237405961C>T,c.181G>A,p.D61N |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237405936C>T,c.206G>A,p.R69Q |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237374287G>A,c.787C>T,p.R263W |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237374286C>T,c.788G>A,p.R263Q |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237374191C>T,c.883G>A,p.E295K |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237374170G>A,c.904C>T,p.R302W |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237374155C>T,c.919G>A,p.E307K |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237349715C>G,c.979G>C,p.A327P |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237327841T>C,c.1085A>G,p.Q362R |