| 基因名 | 突变 |
|---|---|
| HPSE2(NM_001166246,heparanase 2,548aa) | g.10:100380410G>A,c.1154C>T,p.T385I |
| HPSE2(NM_001166246,heparanase 2,548aa) | g.10:100374723G>A,c.1258C>T,p.R420W |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103827279G>A,c.2048G>A,p.R683Q |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103827260G>A,c.2029G>A,p.E677K |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103827230C>T,c.1999C>T,p.R667X |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103826706G>A,c.1475G>A,p.R492H |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103826609C>T,c.1378C>T,p.R460W |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103826528C>T,c.1297C>T,p.R433W |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103826291C>T,c.1060C>T,p.H354Y |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103826163C>T,c.932C>T,p.P311L |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103825929T>G,c.698T>G,p.L233R |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103825863G>C,c.632G>C,p.G211A |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103825629C>T,c.398C>T,p.A133V |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103825568C>T,c.337C>T,p.R113W |
| HPS6(NM_024747,Hermansky-Pudlak syndrome 6,775aa) | g.10:103825508G>T,c.277G>T,p.V93L |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18339320C>T,c.86G>A,p.R29Q |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18332985G>C,c.233C>G,p.S78C |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18332977C>T,c.241G>A,p.A81T |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18332944C>T,c.274G>A,p.V92I |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18332443G>A,c.322C>T,p.R108C |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18332420C>T,c.345G>A,p.M115I |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18332362T>C,c.403A>G,p.I135V |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18319180G>T,c.1249C>A,p.L417M |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18318498G>A,c.1357C>T,p.R453C |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18318354C>T,c.1501G>A,p.G501R |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18317571C>A,c.1609G>T,p.V537L |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18316666G>A,c.1685C>T,p.T562M |
| HPS5(NM_181507,Hermansky-Pudlak syndrome 5,1129aa) | g.11:18316604C>A,c.1747G>T,p.V583L |