| 基因名 | 突变 |
|---|---|
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138290170T>A,c.98A>T,p.N33I |
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138289314C>T,c.311G>A,p.R104Q |
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138289221C>T,c.404G>A,p.S135N |
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138248256T>A,c.741A>T,p.R247S |
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138244395T>C,c.881A>G,p.H294R |
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138219315C>T,c.1463G>A,p.R488Q |
| CEP70(NM_024491,centrosomal protein 70kDa,597aa) | g.3:138218994T>C,c.1610A>G,p.N537S |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65300072_65300074del,c.1842_1844del,p.614_615del |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65300026G>A,c.1796G>A,p.R599Q |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299971G>A,c.1741G>A,p.G581R |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299921G>A,c.1691G>A,p.R564H |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299858C>T,c.1628C>T,p.A543V |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299802T>G,c.1572T>G,p.S524R |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299624G>C,c.1394G>C,p.C465S |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299614C>T,c.1384C>T,p.R462C |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299420T>C,c.1190T>C,p.L397P |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299330T>A,c.1100T>A,p.F367Y |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299300G>C,c.1070G>C,p.C357S |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65299298C>A,c.1068C>A,p.N356K |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65298657A>G,c.427A>G,p.I143V |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65298649C>G,c.419C>G,p.T140R |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65298647_65298649del,c.417_419del,p.139_140del |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65298615G>A,c.385G>A,p.E129K |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65296816C>A,c.238C>A,p.Q80K |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65296798G>A,c.220G>A,p.G74S |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65296745G>T,c.167G>T,p.W56L |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65296706C>T,c.128C>T,p.P43L |
| CEP68(NM_015147,centrosomal protein 68kDa,757aa) | g.2:65296657A>G,c.79A>G,p.R27G |