| 基因名 | 突变 |
|---|---|
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13042247A>G,c.1981A>G,p.I661V |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13040931C>T,c.1912C>T,p.H638Y |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13029986G>A,c.1375G>A,p.E459K |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13029680G>A,c.1069G>A,p.V357I |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13019147C>A,c.992C>A,p.T331N |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13019102A>G,c.947A>G,p.D316G |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13015389C>G,c.582C>G,p.H194Q |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13008577C>G,c.413C>G,p.S138C |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13001523G>A,c.232G>A,p.G78R |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13001512G>C,c.221G>C,p.G74A |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243385102T>C,c.119A>G,p.D40G |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243354673G>A,c.755C>T,p.S252L |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243349655C>T,c.1178G>A,p.R393H |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243332978G>T,c.1795C>A,p.Q599K |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243329049G>A,c.2213C>T,p.T738I |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243328887G>T,c.2375C>A,p.S792X |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243327936C>G,c.3326G>C,p.G1109A |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243327912G>C,c.3350C>G,p.A1117G |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243319611T>C,c.3823A>G,p.M1275V |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243291578G>T,c.4438C>A,p.L1480M |
| CEP170(NM_014812,centrosomal protein 170kDa,1584aa) | g.1:243289852C>A,c.4654G>T,p.A1552S |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105361204C>A,c.4574C>A,p.P1525H |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105360107G>A,c.4192G>A,p.D1398N |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105359441C>T,c.4007C>T,p.T1336I |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105355989C>T,c.3772C>T,p.R1258W |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105354220G>A,c.3644G>A,p.R1215Q |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353958C>T,c.3382C>T,p.R1128W |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353767A>C,c.3191A>C,p.N1064T |