| 基因名 | 突变 |
|---|---|
| OCLM(NM_022375,oculomedin,44aa) | g.1:186370266G>T,c.89G>T,p.G30V |
| OCIAD2(NM_001014446,OCIA domain containing 2,154aa) | g.4:48896022C>T,c.265+1G>A,p.89Donor |
| OCIAD2(NM_001014446,OCIA domain containing 2,154aa) | g.4:48894820G>A,c.352C>T,p.R118C |
| OCIAD1(NM_001079839,OCIA domain containing 1,245aa) | g.4:48851975A>G,c.253A>G,p.M85V |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17339114G>A,c.668G>A,p.R223Q |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17338811C>A,c.615C>A,p.S205R |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17338716G>C,c.520G>C,p.G174R |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17338002A>G,c.446A>G,p.Y149C |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17337983C>A,c.427C>A,p.P143T |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17337927C>T,c.371C>T,p.A124V |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17337882C>G,c.326C>G,p.A109G |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17337676C>T,c.244C>T,p.P82S |
| OCEL1(NM_024578,occludin/ELL domain containing 1,264aa) | g.19:17337557G>T,c.125G>T,p.R42L |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28326981C>T,c.40G>A,p.A14T |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28326977G>A,c.44C>T,p.P15L |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28326942C>T,c.79G>A,p.G27R |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28326795T>A,c.226A>T,p.R76W |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28273126G>A,c.406C>T,p.R136X |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28267700G>A,c.593C>T,p.P198L |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28267661G>A,c.632C>T,p.P211L |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28263628G>C,c.722C>G,p.P241R |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28263623G>A,c.727C>T,p.R243C |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28263554G>A,c.796C>T,p.R266W |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28261291G>T,c.849C>A,p.S283R |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28260053G>A,c.913C>T,p.R305W |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28259941T>C,c.1025A>G,p.Y342C |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28235773C>T,c.1065G>A,p.A355A |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28235725G>A,c.1113C>T,p.G371G |