| 基因名 | 突变 |
|---|---|
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14042187G>A,c.2734G>A,p.G912R |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14042178G>A,c.2725G>A,p.V909I |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14042100G>A,c.2647G>A,p.E883K |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14042077A>G,c.2624A>G,p.E875G |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14041998C>G,c.2545C>G,p.Q849E |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14041848C>T,c.2395C>T,p.R799W |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14041570T>C,c.2117T>C,p.I706T |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14041558G>A,c.2105G>A,p.R702Q |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14038659T>C,c.1984T>C,p.S662P |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14031682G>A,c.1871G>A,p.R624Q |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14029352C>G,c.1563C>G,p.S521R |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14029218C>T,c.1429C>T,p.R477W |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14029123A>C,c.1334A>C,p.K445T |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14029033G>A,c.1244G>A,p.R415Q |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14028081C>T,c.1135C>T,p.P379S |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14015937G>A,c.257G>A,p.R86H |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14015921G>T,c.241G>T,p.V81F |
| ERCC4(NM_005236,excision repair cross-complementing rodent repair deficiency, complementation group 4,916aa) | g.16:14014038C>T,c.16C>T,p.P6S |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128051291T>C,c.32A>G,p.K11R |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128046416G>A,c.847C>T,p.R283C |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128046370C>T,c.893G>A,p.R298Q |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128044351C>T,c.1270G>A,p.E424K |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128038139C>T,c.1411G>A,p.V471I |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128017009C>T,c.2080G>A,p.A694T |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128016886A>G,c.2203T>C,p.S735P |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128015297G>A,c.2224C>T,p.R742W |
| ERCC3(NM_000122,excision repair cross-complementing rodent repair deficiency, complementation group 3,782aa) | g.2:128015230G>A,c.2291C>T,p.S764L |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45868309T>G,c.468A>C,p.R156R |