| 基因名 | 突变 |
|---|---|
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17814915A>G,c.1789A>G,p.M597V |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17813137C>T,c.1447C>T,p.H483Y |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17810518C>T,c.1111C>T,p.L371F |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17804768T>C,c.857T>C,p.M286T |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17804695G>A,c.784G>A,p.A262T |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17796433C>A,c.527C>A,p.A176D |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17796382A>G,c.476A>G,p.N159S |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17796373C>T,c.467C>T,p.A156V |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17794784C>T,c.238C>T,p.P80S |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82791697A>G,c.212T>C,p.V71A |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82785371C>A,c.586G>T,p.V196F |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82785304G>A,c.653C>T,p.P218L |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82785271G>A,c.686C>T,p.P229L |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82785097T>C,c.860A>G,p.D287G |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82785014G>C,c.943C>G,p.P315A |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82784995T>C,c.962A>G,p.H321R |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82784832C>G,c.1125G>C,p.Q375H |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82784588C>T,c.1369G>A,p.G457R |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82784501G>A,c.1456C>T,p.P486S |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82784456A>G,c.1501T>C,p.S501P |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764924C>T,c.1942G>A,p.G648R |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764800G>A,c.2066C>T,p.A689V |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764441T>C,c.2425A>G,p.T809A |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764425C>G,c.2441G>C,p.S814T |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764393C>T,c.2473G>A,p.A825T |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764192G>A,c.2674C>T,p.P892S |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82764175C>G,c.2691G>C,p.K897N |
| PCLO(NM_033026,piccolo presynaptic cytomatrix protein,5142aa) | g.7:82763883G>C,c.2983C>G,p.P995A |