| 基因名 | 突变 |
|---|---|
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58134441C>T,c.2047G>A,p.E683K |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58134425C>T,c.2063G>A,p.R688Q |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58128254C>T,c.2374G>A,p.A792T |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58124696T>C,c.2743A>G,p.I915V |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58123583C>T,c.2777G>A,p.S926N |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58123443G>A,c.2917C>T,p.R973X |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58121453G>A,c.3017C>T,p.S1006L |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58121448C>T,c.3022G>A,p.V1008M |
| HEATR6(NM_022070,HEAT repeat containing 6,1181aa) | g.17:58120980C>T,c.3490G>A,p.V1164I |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37296064C>A,c.937G>T,p.V313F |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37295830C>T,c.1171G>A,p.A391T |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37293012C>T,c.1219G>A,p.A407T |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37287742G>A,c.1831C>T,p.R611C |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37280697C>T,c.2453G>A,p.R818H |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37259814T>C,c.3319A>G,p.S1107G |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37255917G>A,c.3508C>T,p.H1170Y |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37241120T>C,c.4148A>G,p.N1383S |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37235927T>A,c.4349A>T,p.N1450I |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37234262C>G,c.4708G>C,p.A1570P |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37232879A>C,c.4801T>G,p.S1601A |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37232791T>C,c.4889A>G,p.H1630R |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37227892T>C,c.5382A>G,p.I1794M |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37227797C>G,c.5477G>C,p.G1826A |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37217894G>A,c.5594C>T,p.A1865V |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37217852T>A,c.5636A>T,p.Q1879L |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37215953T>C,c.5747A>G,p.N1916S |
| HEATR5B(NM_019024,HEAT repeat containing 5B,2071aa) | g.2:37208680C>T,c.6169G>A,p.A2057T |
| HEATR5A(NM_015473,HEAT repeat containing 5A,2046aa) | g.14:31864485G>C,c.517C>G,p.P173A |