| 基因名 | 突变 |
|---|---|
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236746099A>C,c.2499T>G,p.F833L |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236744626C>T,c.2651G>A,p.S884N |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236740169T>C,c.2836A>G,p.S946G |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236740153G>C,c.2852C>G,p.P951R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236740135T>C,c.2870A>G,p.D957G |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236740100C>T,c.2905G>A,p.D969N |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236737983A>G,c.3305T>C,p.I1102T |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236734939T>C,c.3755A>G,p.K1252R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236734753C>A,c.3846G>T,p.K1282N |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236730157A>G,c.4097T>C,p.I1366T |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236729999G>C,c.4255C>G,p.L1419V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236729965G>A,c.4289C>T,p.A1430V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236729956T>C,c.4298A>G,p.Y1433C |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236723108C>T,c.4676G>A,p.S1559N |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236723074G>C,c.4710C>G,p.D1570E |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236723064C>T,c.4720G>A,p.V1574M |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236722318T>C,c.4888A>G,p.N1630D |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236721780C>T,c.4961G>A,p.R1654H |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236721700A>C,c.5041T>G,p.F1681V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236721660T>C,c.5081A>G,p.N1694S |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236721600G>A,c.5141C>T,p.A1714V |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236720628A>T,c.5222T>A,p.L1741Q |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236720535G>A,c.5315C>T,p.P1772L |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236719441C>T,c.5473G>A,p.A1825T |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236719193A>G,c.5561T>C,p.V1854A |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236719184T>C,c.5570A>G,p.K1857R |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236718930G>A,c.5675C>T,p.T1892M |
| HEATR1(NM_018072,HEAT repeat containing 1,2144aa) | g.1:236718620T>C,c.5899A>G,p.N1967D |