| 基因名 | 突变 |
|---|---|
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148885025C>T,c.2794C>T,p.R932W |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148884930G>A,c.2699G>A,p.R900H |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148881674G>A,c.2527G>A,p.V843I |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148880043G>A,c.2215G>A,p.G739R |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148876533C>T,c.1772C>T,p.T591M |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148876472C>T,c.1711C>T,p.H571Y |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148875144A>G,c.1517A>G,p.Y506C |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148871422C>T,c.1387C>T,p.P463S |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148859167G>A,c.970G>A,p.G324S |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148858267A>G,c.694A>G,p.I232V |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148858250A>G,c.677A>G,p.H226R |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148857983T>C,c.410T>C,p.L137S |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148857971C>T,c.398C>T,p.S133L |
| HPS3(NM_032383,Hermansky-Pudlak syndrome 3,1004aa) | g.3:148847668A>G,c.158A>G,p.Q53R |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100202987A>G,c.11T>C,p.V4A |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100195405T>A,c.242A>T,p.Y81F |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100193774C>T,c.473G>A,p.R158H |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100193769G>A,c.478C>T,p.R160W |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100191023_100191024insG,c.532_533insC,p.178fs |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100190999G>A,c.557C>T,p.A186V |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100190354C>T,c.742G>A,p.E248K |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100189636C>T,c.779G>A,p.R260Q |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100189628G>A,c.787C>T,p.R263W |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100189568C>G,c.847G>C,p.G283R |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100189568C>A,c.847G>T,p.G283W |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100187007G>C,c.952C>G,p.L318V |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100186997del,c.962del,p.321fs |
| HPS1(NM_000195,Hermansky-Pudlak syndrome 1,700aa) | g.10:100186987del,c.972del,p.324fs |