| 基因名 | 突变 |
|---|---|
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50678317C>G,c.3689G>C,p.R1230P |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50669597C>T,c.3784G>A,p.V1262M |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50669416C>A,c.3965G>T,p.G1322V |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50668466A>G,c.4015T>C,p.F1339L |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50667127C>T,c.4216G>A,p.E1406K |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50667120T>G,c.4223A>C,p.E1408A |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50667105T>C,c.4238A>G,p.Q1413R |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50666949A>G,c.4394T>C,p.V1465A |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71428348C>T,c.269G>A,p.R90Q |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71428205C>T,c.412G>A,p.G138S |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71427933A>C,c.684T>G,p.D228E |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71426552C>T,c.2065G>A,p.D689N |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71426341C>T,c.2276G>A,p.S759N |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71425235C>T,c.3382G>A,p.E1128K |
| ERCC6L(NM_017669,excision repair cross-complementing rodent repair deficiency, complementation group 6-like,1250aa) | g.X:71425000C>T,c.3617G>A,p.R1206H |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98718284A>G,c.1969A>G,p.I657V |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98718278C>T,c.1963C>T,p.R655X |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98691137T>C,c.1775T>C,p.V592A |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98684666C>T,c.1412C>T,p.A471V |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98683493G>C,c.1228G>C,p.V410L |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98669478G>A,c.746G>A,p.R249H |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98669415A>G,c.683A>G,p.D228G |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98643483C>G,c.412C>G,p.Q138E |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98638328C>A,c.41C>A,p.P14Q |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98638313C>G,c.26C>G,p.P9R |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98638306C>T,c.19C>T,p.P7S |
| ERCC6L2(NM_001010895,excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2,712aa) | g.9:98638288A>G,c.1A>G,p.M1V |
| ERCC5(NM_000123,excision repair cross-complementing rodent repair deficiency, complementation group 5,1186aa) | g.13:103498692A>G,c.76A>G,p.I26V |