| 基因名 | 突变 |
|---|---|
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13116432G>T,c.7346G>T,p.R2449L |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13100451A>G,c.6811A>G,p.K2271E |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13100377T>C,c.6737T>C,p.F2246S |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13100326G>A,c.6686G>A,p.R2229Q |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13095626G>A,c.6379G>A,p.E2127K |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13095609T>C,c.6362T>C,p.L2121P |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13095603C>T,c.6356C>T,p.P2119L |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13095591G>A,c.6344G>A,p.R2115Q |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13092424G>A,c.6152G>A,p.S2051N |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13092391A>G,c.6119A>G,p.Q2040R |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13069782C>T,c.5101C>T,p.L1701F |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13069131A>G,c.5006A>G,p.H1669R |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13068922G>A,c.4894G>A,p.V1632I |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13068878C>T,c.4850C>T,p.S1617L |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13068132T>C,c.4654T>C,p.S1552P |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13068109G>A,c.4631G>A,p.R1544H |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13059175C>T,c.4352C>T,p.S1451F |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13057673A>G,c.4198A>G,p.T1400A |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13057655C>T,c.4180C>T,p.L1394F |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13056682G>A,c.4093G>A,p.V1365M |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13056640T>A,c.4051T>A,p.S1351T |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13056214C>T,c.3625C>T,p.R1209C |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13056065C>G,c.3476C>G,p.P1159R |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13056046G>A,c.3457G>A,p.V1153I |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13055915A>C,c.3326A>C,p.Q1109P |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13053031C>T,c.3131C>T,p.S1044F |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13049266G>T,c.2476G>T,p.D826Y |
| CEP192(NM_032142,centrosomal protein 192kDa,2537aa) | g.18:13042311C>T,c.2045C>T,p.T682M |