| 基因名 | 突变 |
|---|---|
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50732280C>T,c.1196G>A,p.G399D |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50732202T>G,c.1274A>C,p.D425A |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50732154T>C,c.1322A>G,p.E441G |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50732139C>T,c.1337G>A,p.G446D |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50732086G>A,c.1390C>T,p.R464W |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50714021G>A,c.1435C>T,p.R479C |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50708599C>T,c.1670G>A,p.R557H |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50701221C>G,c.1763G>C,p.W588S |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50701212G>A,c.1772C>T,p.P591L |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50701183C>T,c.1801G>A,p.G601S |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50691550G>A,c.1834C>T,p.R612X |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50690906G>A,c.1996C>T,p.R666C |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50690855G>A,c.2047C>T,p.R683X |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50690806G>A,c.2096C>T,p.T699M |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50690777C>T,c.2125G>A,p.V709I |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50686474T>G,c.2212A>C,p.I738L |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50686456G>A,c.2230C>T,p.R744W |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50684290C>T,c.2353G>A,p.V785I |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50682195C>G,c.2476G>C,p.E826Q |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50682161C>T,c.2510G>A,p.R837H |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50681070G>A,c.2714C>T,p.T905I |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50681043G>A,c.2741C>T,p.T914M |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50681041G>A,c.2743C>T,p.R915W |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50678884T>G,c.3122A>C,p.Q1041P |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50678717T>C,c.3289A>G,p.M1097V |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50678425T>C,c.3581A>G,p.E1194G |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50678369T>C,c.3637A>G,p.R1213G |
| ERCC6(NM_000124,excision repair cross-complementing rodent repair deficiency, complementation group 6,1493aa) | g.10:50678347G>A,c.3659C>T,p.T1220I |