| 基因名 | 突变 |
|---|---|
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133644137C>A,c.1056G>T,p.K352N |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133644012A>G,c.1181T>C,p.M394T |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133642326T>C,c.1432A>G,p.R478G |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133640228G>A,c.1489C>T,p.R497X |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76551025G>A,c.148C>T,p.R50X |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76530796C>A,c.565G>T,p.G189C |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76529042G>A,c.754C>T,p.R252C |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76529038T>C,c.758A>G,p.Y253C |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76525532C>T,c.817G>A,p.D273N |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76523370A>G,c.911T>C,p.V304A |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76522209G>A,c.1232C>T,p.A411V |
| CDKL2(NM_003948,cyclin-dependent kinase-like 2 (CDC2-related kinase),493aa) | g.4:76521525C>T,c.1323-1G>A,p.441Acceptor |
| CDKL1(NM_001282236,cyclin-dependent kinase-like 1 (CDC2-related kinase),276aa) | g.14:50862552T>C,c.38A>G,p.E13G |
| CDKL1(NM_001282236,cyclin-dependent kinase-like 1 (CDC2-related kinase),276aa) | g.14:50825816G>A,c.223C>T,p.R75W |
| CDKL1(NM_001282236,cyclin-dependent kinase-like 1 (CDC2-related kinase),276aa) | g.14:50807875G>A,c.533C>T,p.T178M |
| CDKL1(NM_001282236,cyclin-dependent kinase-like 1 (CDC2-related kinase),276aa) | g.14:50805666A>G,c.740T>C,p.M247T |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:21231263A>G,c.1733A>G,p.Y578C |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:21231212C>T,c.1682C>T,p.S561F |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:21201453C>T,c.1496C>T,p.T499M |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:21065449C>T,c.1226C>T,p.P409L |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:21000533G>A,c.985G>A,p.V329I |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:20781460A>G,c.602A>G,p.K201R |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:20739821A>G,c.443A>G,p.Y148C |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:20546703G>A,c.122G>A,p.R41Q |
| CDKAL1(NM_017774,CDK5 regulatory subunit associated protein 1-like 1,579aa) | g.6:20546697G>A,c.116G>A,p.R39Q |
| CDK9(NM_001261,cyclin-dependent kinase 9,372aa) | g.9:130551615C>G,c.912C>G,p.I304M |
| CDK8(NM_001260,cyclin-dependent kinase 8,464aa) | g.13:26923225A>G,c.221A>G,p.K74R |
| CDK7(NM_001799,cyclin-dependent kinase 7,346aa) | g.5:68568858C>T,c.854C>T,p.T285M |