| 基因名 | 突变 |
|---|---|
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95604392G>A,c.668C>T,p.A223V |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95604377G>T,c.683C>A,p.S228Y |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95604290T>C,c.770A>G,p.Q257R |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95604233T>C,c.827A>G,p.E276G |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95604074T>C,c.986A>G,p.K329R |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95603852G>A,c.1208C>T,p.A403V |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95603571T>G,c.1489A>C,p.K497Q |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95603382G>A,c.1678C>T,p.R560W |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95602805C>A,c.2255G>T,p.R752L |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95566414A>T,c.2548T>A,p.S850T |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95535200_95535201insC,c.2800_2801insG,p.934fs |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95528593G>A,c.3004C>T,p.R1002C |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95488416C>G,c.3552G>C,p.E1184D |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95479630C>T,c.4033G>A,p.G1345S |
| FGD6(NM_018351,FYVE, RhoGEF and PH domain containing 6,1430aa) | g.12:95478353C>T,c.4177G>A,p.E1393K |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14965580G>A,c.4003G>A,p.V1335I |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14964637G>A,c.3892G>A,p.G1298R |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14958805G>A,c.3455G>A,p.R1152Q |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14942542C>T,c.3238C>T,p.R1080C |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14939592G>A,c.3056G>A,p.R1019H |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14939484G>A,c.2948G>A,p.R983Q |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14939471G>A,c.2935G>A,p.V979I |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14863060G>A,c.2482G>A,p.A828T |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14862704G>A,c.2126G>A,p.R709Q |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14862383C>T,c.1805C>T,p.P602L |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14862376C>T,c.1798C>T,p.H600Y |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14862235G>A,c.1657G>A,p.V553M |
| FGD5(NM_152536,FYVE, RhoGEF and PH domain containing 5,1462aa) | g.3:14862121G>A,c.1543G>A,p.A515T |