| 基因名 | 突变 |
|---|---|
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18314471G>T,c.1837C>A,p.L613I |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18313529C>T,c.1900G>A,p.E634K |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18313060G>A,c.2369C>T,p.A790V |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18305359A>T,c.3041T>A,p.L1014Q |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18305355C>T,c.3045G>A,p.M1015I |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18305354C>T,c.3046G>A,p.E1016K |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18303597G>A,c.3229C>T,p.R1077W |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18303533G>A,c.3293C>T,p.T1098I |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26877688C>G,c.41G>C,p.W14S |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26875305_26875306insA,c.57_58insT,p.19fs |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26872985T>C,c.250A>G,p.I84V |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26868809G>C,c.373C>G,p.L125V |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26866738C>A,c.543G>T,p.Q181H |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26866718T>C,c.563A>G,p.H188R |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26862212T>C,c.686A>G,p.E229G |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26861473T>A,c.751A>T,p.T251S |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26860762A>T,c.834T>A,p.D278E |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26860437A>T,c.1159T>A,p.F387I |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26860269G>C,c.1327C>G,p.L443V |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26860200G>A,c.1396C>T,p.R466C |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26860053A>G,c.1543T>C,p.C515R |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26859956C>G,c.1640G>C,p.C547S |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26859942C>T,c.1654G>A,p.V552M |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26859917G>A,c.1679C>T,p.P560L |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26854441G>A,c.1816C>T,p.H606Y |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26853905C>A,c.1875G>T,p.Q625H |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26853833C>T,c.1947G>A,p.M649I |
| HPS4(NM_022081,Hermansky-Pudlak syndrome 4,708aa) | g.22:26849285C>T,c.2041G>A,p.G681S |