| 基因名 | 突变 |
|---|---|
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:769411A>T,c.707A>T,p.H236L |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:769344C>G,c.640C>G,p.Q214E |
| HEATR2(NM_017802,HEAT repeat containing 2,855aa) | g.7:769318C>T,c.614C>T,p.S205L |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236767349C>A,c.47G>T,p.S16I |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236760146T>C,c.734A>G,p.Y245C |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236759289T>C,c.800A>G,p.Q267R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236758957A>G,c.973T>C,p.C325R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236758926T>C,c.1004A>G,p.H335R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236758887T>C,c.1043A>G,p.H348R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236758882T>C,c.1048A>G,p.M350V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236758851T>C,c.1079A>G,p.H360R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236755856T>C,c.1271A>G,p.Q424R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236755340G>T,c.1375C>A,p.L459I |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236754224G>C,c.1453C>G,p.L485V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236754203C>G,c.1474G>C,p.A492P |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236751262T>C,c.1612A>G,p.I538V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236750709C>T,c.1708G>A,p.G570R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236749730C>T,c.1738G>A,p.A580T |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236749649T>C,c.1819A>G,p.M607V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236749589T>C,c.1879A>G,p.K627E |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236749131T>C,c.2038A>G,p.M680V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236749128A>C,c.2041T>G,p.L681V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236748398A>G,c.2168T>C,p.F723S |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236748338A>G,c.2228T>C,p.V743A |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236746426T>C,c.2312A>G,p.Y771C |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236746391C>T,c.2347G>A,p.V783M |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236746370C>T,c.2368G>A,p.V790I |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236746126G>C,c.2472C>G,p.D824E |