| 基因名 | 突变 |
|---|---|
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145627776C>T,c.925C>T,p.R309W |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145580875C>T,c.716C>T,p.S239L |
| HHIP(NM_022475,hedgehog interacting protein,700aa) | g.4:145579953A>G,c.484A>G,p.T162A |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222717517G>C,c.336C>G,p.Y112X |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222717132C>T,c.721G>A,p.V241M |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222717027C>T,c.826G>A,p.G276R |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222715499T>C,c.975-2A>G,p.325Acceptor |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222713631G>C,c.1171C>G,p.H391D |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222713621C>T,c.1181G>A,p.R394Q |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222713606G>A,c.1196C>T,p.S399L |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222713502G>A,c.1300C>T,p.R434C |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222713501C>A,c.1301G>T,p.R434L |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222712108G>T,c.1459C>A,p.L487M |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222705443C>G,c.1588G>C,p.A530P |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222705418T>G,c.1613A>C,p.K538T |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222700374G>A,c.1742C>T,p.A581V |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222700317G>C,c.1799C>G,p.P600R |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222696171A>T,c.1947T>A,p.S649R |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222696080G>A,c.2038C>T,p.R680X |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222696035G>A,c.2083C>T,p.R695C |
| HHIPL2(NM_024746,HHIP-like 2,724aa) | g.1:222696004C>A,c.2114G>T,p.S705I |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100141689T>C,c.2075T>C,p.V692A |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100138730A>G,c.1807A>G,p.K603E |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100134607G>A,c.1697G>A,p.R566H |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100123434G>A,c.1000G>A,p.G334R |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100123404G>A,c.970G>A,p.G324R |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100123395G>A,c.961G>A,p.G321R |
| HHIPL1(NM_001127258,HHIP-like 1,782aa) | g.14:100119170G>A,c.865G>A,p.E289K |