| 基因名 | 突变 |
|---|---|
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50118183A>G,c.1271A>G,p.N424S |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50118125G>A,c.1213G>A,p.G405R |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50112898G>A,c.1010G>A,p.R337K |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50112794G>T,c.906G>T,p.R302S |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50100161C>T,c.119C>T,p.A40V |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50100161C>G,c.119C>G,p.A40G |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:825213G>A,c.2491G>A,p.V831I |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:819770A>G,c.2420A>G,p.D807G |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:819679G>A,c.2329G>A,p.A777T |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:819602G>A,c.2252G>A,p.R751H |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:814788G>A,c.2228G>A,p.R743K |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:810219T>C,c.1895T>C,p.V632A |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:803543C>T,c.1715C>T,p.A572V |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:803534G>A,c.1706G>A,p.R569Q |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:803514C>G,c.1686C>G,p.H562Q |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:803506C>T,c.1678C>T,p.R560C |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:801507G>A,c.1588G>A,p.A530T |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:796555G>A,c.1394G>A,p.R465Q |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:796542C>T,c.1381C>T,p.R461W |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:796536G>A,c.1375G>A,p.A459T |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:796501C>T,c.1340C>T,p.T447M |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:796486C>T,c.1325C>T,p.S442L |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:796431G>A,c.1270G>A,p.A424T |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:780999C>A,c.921C>A,p.S307R |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:780559A>G,c.884A>G,p.N295S |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:780477G>A,c.802G>A,p.V268M |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:780463G>A,c.788G>A,p.R263Q |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:780462C>T,c.787C>T,p.R263W |