| 基因名 | 突变 |
|---|---|
| CDKN2AIP(NM_017632,CDKN2A interacting protein,580aa) | g.4:184367559_184367561del,c.722_724del,p.241_242del |
| CDKN2AIP(NM_017632,CDKN2A interacting protein,580aa) | g.4:184367322C>G,c.485C>G,p.S162C |
| CDKN2AIP(NM_017632,CDKN2A interacting protein,580aa) | g.4:184366755A>G,c.340A>G,p.T114A |
| CDKN1B(NM_004064,cyclin-dependent kinase inhibitor 1B (p27, Kip1),198aa) | g.12:12871216G>T,c.443G>T,p.C148F |
| CDKN1B(NM_004064,cyclin-dependent kinase inhibitor 1B (p27, Kip1),198aa) | g.12:12871170C>A,c.397C>A,p.P133T |
| CDKN1B(NM_004064,cyclin-dependent kinase inhibitor 1B (p27, Kip1),198aa) | g.12:12871129T>C,c.356T>C,p.I119T |
| CDKN1B(NM_004064,cyclin-dependent kinase inhibitor 1B (p27, Kip1),198aa) | g.12:12871099T>G,c.326T>G,p.V109G |
| CDKN1B(NM_004064,cyclin-dependent kinase inhibitor 1B (p27, Kip1),198aa) | g.12:12870998G>C,c.225G>C,p.E75D |
| CDKN1A(NM_001220778,cyclin-dependent kinase inhibitor 1A (p21, Cip1),164aa) | g.6:36652129G>A,c.251G>A,p.R84Q |
| CDKN1A(NM_001220778,cyclin-dependent kinase inhibitor 1A (p21, Cip1),164aa) | g.6:36652125C>T,c.247C>T,p.R83W |
| CDKN1A(NM_001220778,cyclin-dependent kinase inhibitor 1A (p21, Cip1),164aa) | g.6:36652117C>T,c.239C>T,p.T80M |
| CDKN1A(NM_001220778,cyclin-dependent kinase inhibitor 1A (p21, Cip1),164aa) | g.6:36651971C>A,c.93C>A,p.S31R |
| CDKL5(NM_003159,cyclin-dependent kinase-like 5,1030aa) | g.X:18668599G>A,c.2867G>A,p.R956H |
| CDKL5(NM_003159,cyclin-dependent kinase-like 5,1030aa) | g.X:18668586C>T,c.2854C>T,p.R952X |
| CDKL5(NM_003159,cyclin-dependent kinase-like 5,1030aa) | g.X:18638082A>C,c.2372A>C,p.Q791P |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39456559C>T,c.115G>A,p.E39K |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39456516C>T,c.158G>A,p.R53H |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39417562C>A,c.536G>T,p.G179V |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39414801_39414802insAA,c.701_702insTT,p.234fs |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39406362G>A,c.893C>T,p.A298V |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39406336G>A,c.919C>T,p.R307C |
| CDKL4(NM_001009565,cyclin-dependent kinase-like 4,315aa) | g.2:39406320G>A,c.935C>T,p.P312L |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133702147T>C,c.68A>G,p.H23R |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133695604T>C,c.344A>G,p.Y115C |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133686037G>A,c.442C>T,p.R148X |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133686006G>A,c.473C>T,p.T158M |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133655021C>T,c.792+28G>A,p.264CrypticAcceptor |
| CDKL3(NM_001113575,cyclin-dependent kinase-like 3,592aa) | g.5:133644302T>G,c.998A>C,p.Y333S |