| 基因名 | 突变 |
|---|---|
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31858209C>T,c.775G>A,p.A259T |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31858187C>T,c.797G>A,p.R266K |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31856407C>T,c.1108G>A,p.G370S |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31856396_31856398del,c.1117_1119del,p.373del |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31852854C>T,c.1469G>A,p.R490H |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31852842C>T,c.1481G>A,p.R494Q |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31844163C>T,c.1720G>A,p.V574I |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31841113T>C,c.1864A>G,p.I622V |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31833463G>A,c.2003C>T,p.T668I |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31819145A>G,c.2558T>C,p.M853T |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31819068A>T,c.2635T>A,p.S879T |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31819047C>T,c.2656G>A,p.V886M |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31816982G>A,c.2840C>T,p.A947V |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31795403T>G,c.3513A>C,p.L1171F |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31792968T>C,c.3590A>G,p.E1197G |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31790886T>G,c.3788A>C,p.N1263T |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31785059C>A,c.4135G>T,p.A1379S |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31782395A>G,c.4220T>C,p.V1407A |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31782275T>C,c.4340A>G,p.Y1447C |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31778196C>T,c.4634G>A,p.G1545E |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31775976G>C,c.4928C>G,p.A1643G |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31774324C>T,c.5026G>A,p.G1676R |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31774203G>C,c.5147C>G,p.T1716R |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31765261T>C,c.5473A>G,p.T1825A |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31765126T>C,c.5608A>G,p.K1870E |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31763142T>G,c.5788A>C,p.I1930L |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31762635T>C,c.6017A>G,p.K2006R |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989816C>T,c.41G>A,p.C14Y |