| 基因名 | 突变 |
|---|---|
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100186986_100186987insG,c.972_973insC,p.324fs |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100185668A>T,c.1062T>A,p.D354E |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100185444del,c.1189del,p.397fs |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100185347C>T,c.1286G>A,p.R429H |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100183636T>C,c.1406A>G,p.Q469R |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100183570G>C,c.1472C>G,p.P491R |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100179851T>C,c.1808A>G,p.Q603R |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100177984C>T,c.1888G>A,p.V630I |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100177359G>A,c.2065C>T,p.R689W |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100177338G>C,c.2086C>G,p.R696G |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110948C>G,c.1015C>G,p.H339D |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110871C>T,c.938C>T,p.A313V |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110781T>C,c.848T>C,p.V283A |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110637C>A,c.704C>A,p.T235N |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110594G>T,c.661G>T,p.G221C |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110589G>C,c.656G>C,p.R219P |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110589G>A,c.656G>A,p.R219H |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110541G>A,c.608G>A,p.R203K |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72110257C>G,c.324C>G,p.H108Q |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72108270G>A,c.179G>A,p.R60H |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72108264G>C,c.173G>C,p.R58T |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72108204_72108205del,c.113_114del,p.38fs |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72108192T>G,c.101T>G,p.F34C |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72108188C>G,c.97C>G,p.R33G |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72107865C>T,c.80C>T,p.T27M |
| HPR(NM_020995,haptoglobin-related protein,348aa) | g.16:72107828C>T,c.43C>T,p.R15X |
| HPN(NM_182983,hepsin,417aa) | g.19:35556238C>T,c.896C>T,p.T299M |
| HPN(NM_182983,hepsin,417aa) | g.19:35550869A>G,c.382A>G,p.T128A |