| 基因名 | 突变 |
|---|---|
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989523G>A,c.334C>T,p.R112W |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989385G>A,c.472C>T,p.R158W |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989384C>T,c.473G>A,p.R158Q |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989373del,c.484del,p.162fs |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989369G>T,c.488C>A,p.P163H |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73989145G>A,c.712C>T,p.R238C |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73987730A>G,c.895T>C,p.F299L |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73987566C>G,c.1059G>C,p.E353D |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73985794G>C,c.1143C>G,p.N381K |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73980744A>G,c.1405T>C,p.W469R |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73978850A>G,c.1418T>C,p.I473T |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73978829A>G,c.1439T>C,p.V480A |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73978772A>C,c.1496T>G,p.I499S |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73978742C>T,c.1526G>A,p.R509Q |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73976045C>T,c.1691G>A,p.R564Q |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73973254C>T,c.1903G>A,p.A635T |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73969688C>T,c.2016G>A,p.M672I |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73967354T>C,c.2186A>G,p.K729R |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73967265G>A,c.2275C>T,p.R759C |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73965813C>T,c.2318G>A,p.R773K |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73965778G>A,c.2353C>T,p.R785X |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73964964C>T,c.2441G>A,p.R814Q |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73961982C>T,c.2735G>A,p.G912E |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73945496G>C,c.2896C>G,p.L966V |
| HEATR4(NM_001220484,HEAT repeat containing 4,1026aa) | g.14:73945346A>T,c.3046T>A,p.S1016T |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50138853C>A,c.1924C>A,p.R642S |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50136320G>C,c.1894G>C,p.E632Q |
| HEATR3(NM_182922,HEAT repeat containing 3,680aa) | g.16:50128648A>G,c.1543A>G,p.I515V |