| 基因名 | 突变 |
|---|---|
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2649704T>G,c.1996T>G,p.L666V |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2646796G>A,c.1904G>A,p.R635K |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2645618C>T,c.1852C>T,p.R618W |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2645552A>G,c.1786A>G,p.T596A |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2645526G>A,c.1760G>A,p.R587H |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2645522C>T,c.1756C>T,p.P586S |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2644519C>T,c.1637C>T,p.A546V |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2638219G>A,c.1561G>A,p.A521T |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2638189C>T,c.1531C>T,p.R511C |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2632682C>T,c.1271C>T,p.A424V |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2629671G>A,c.1175G>A,p.R392H |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2629644G>A,c.1148G>A,p.R383Q |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2629607T>C,c.1111T>C,p.C371R |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2627489G>A,c.1022G>A,p.R341K |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2626002C>G,c.985C>G,p.Q329E |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2625862C>T,c.845C>T,p.T282M |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2617938G>C,c.528G>C,p.E176D |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2617897G>A,c.487G>A,p.D163N |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2613094T>C,c.437T>C,p.M146T |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2611871C>T,c.305C>T,p.A102V |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2611867C>A,c.301C>A,p.H101N |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2611241G>A,c.212G>A,p.R71Q |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2611214C>T,c.185C>T,p.T62M |
| IQCE(NM_152558,IQ motif containing E,695aa) | g.7:2608634G>A,c.130+1G>A,p.44Donor |
| IQCD(NM_138451,IQ motif containing D,347aa) | g.12:113645916C>T,c.56G>A,p.R19K |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32673673C>T,c.1631C>T,p.P544L |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32673514G>C,c.1472G>C,p.R491T |
| IQCC(NM_001160042,IQ motif containing C,546aa) | g.1:32673444G>T,c.1402G>T,p.G468W |