| 基因名 | 突变 |
|---|---|
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28230319G>A,c.1255C>T,p.R419W |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28230318C>T,c.1256G>A,p.R419Q |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28230247C>T,c.1327G>A,p.V443I |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28230211T>C,c.1363A>G,p.R455G |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28228553C>T,c.1441G>A,p.A481T |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28228503C>G,c.1491G>C,p.E497D |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28202756G>A,c.1762C>T,p.R588W |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28197037T>C,c.1844A>G,p.H615R |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28116379A>G,c.2165T>C,p.I722T |
| OCA2(NM_000275,oculocutaneous albinism II,838aa) | g.15:28096573C>T,c.2293G>A,p.A765T |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133067228C>T,c.46G>A,p.G16R |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133056720A>T,c.129T>A,p.S43R |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133056718C>T,c.131G>A,p.G44E |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133053823C>A,c.293G>T,p.G98V |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133053318T>C,c.430A>G,p.N144D |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133053309T>C,c.439A>G,p.S147G |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133051350G>A,c.478C>T,p.H160Y |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133045399A>G,c.746T>C,p.I249T |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133045372A>G,c.773T>C,p.I258T |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133044207G>A,c.952C>T,p.R318W |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133044200G>A,c.959C>T,p.P320L |
| OC90(NM_001080399,otoconin 90,477aa) | g.8:133041384C>G,c.1074G>C,p.R358S |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220435836G>C,c.119C>G,p.P40R |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220435386G>C,c.569C>G,p.A190G |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220435362G>T,c.593C>A,p.A198E |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220435104C>T,c.851G>A,p.R284H |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220433041G>A,c.1018C>T,p.R340C |
| OBSL1(NM_015311,obscurin-like 1,1896aa) | g.2:220432957G>A,c.1102C>T,p.R368C |