| 基因名 | 突变 |
|---|---|
| CBR3(NM_001236,carbonyl reductase 3,277aa) | g.21:37507740C>G,c.250C>G,p.L84V |
| CBR3(NM_001236,carbonyl reductase 3,277aa) | g.21:37507501G>A,c.11G>A,p.C4Y |
| CBR1(NM_001757,carbonyl reductase 1,277aa) | g.21:37444936C>T,c.590C>T,p.T197M |
| CBR1(NM_001757,carbonyl reductase 1,277aa) | g.21:37444929G>A,c.583G>A,p.G195R |
| CBR1(NM_001757,carbonyl reductase 1,277aa) | g.21:37443349C>T,c.391C>T,p.P131S |
| CBR1(NM_001757,carbonyl reductase 1,277aa) | g.21:37442658G>C,c.245G>C,p.G82A |
| CBR1(NM_001757,carbonyl reductase 1,277aa) | g.21:37442634G>T,c.221G>T,p.R74L |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119170339C>T,c.2569C>T,p.L857F |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119170312G>A,c.2542G>A,p.A848T |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119170283G>T,c.2513G>T,p.G838V |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119169166G>A,c.2350G>A,p.V784M |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119169161C>T,c.2345C>T,p.P782L |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119169128A>T,c.2312A>T,p.D771V |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119169085G>A,c.2269G>A,p.A757T |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119168156C>T,c.2216C>T,p.S739F |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119167651C>T,c.2060C>T,p.P687L |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119156193C>T,c.1858C>T,p.L620F |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119156088C>T,c.1753C>T,p.R585C |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119155983C>T,c.1648C>T,p.R550W |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119155706A>G,c.1459A>G,p.M487V |
| CBL(NM_005188,Cbl proto-oncogene, E3 ubiquitin protein ligase,906aa) | g.11:119148880A>C,c.1100A>C,p.Q367P |
| CBLN3(NM_001039771,cerebellin 3 precursor,205aa) | g.14:24898083C>G,c.178G>C,p.G60R |
| CBLN3(NM_001039771,cerebellin 3 precursor,205aa) | g.14:24897996C>T,c.265G>A,p.G89S |
| CBLN3(NM_001039771,cerebellin 3 precursor,205aa) | g.14:24897560C>T,c.352G>A,p.A118T |
| CBLN3(NM_001039771,cerebellin 3 precursor,205aa) | g.14:24897173G>A,c.440C>T,p.T147M |
| CBLN1(NM_004352,cerebellin 1 precursor,193aa) | g.16:49314916C>A,c.302G>T,p.R101L |
| CBLL1(NM_024814,Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase,491aa) | g.7:107399213C>T,c.1066C>T,p.P356S |
| CBLL1(NM_024814,Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase,491aa) | g.7:107393856A>G,c.182A>G,p.E61G |