| 基因名 | 突变 |
|---|---|
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879848G>A,c.935G>A,p.R312Q |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879841G>T,c.928G>T,p.G310W |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879832G>A,c.919G>A,p.D307N |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879743A>G,c.830A>G,p.Y277C |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879673G>A,c.760G>A,p.G254S |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879530A>G,c.703A>G,p.M235V |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13879456G>A,c.629G>A,p.R210Q |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13876922G>A,c.526G>A,p.A176T |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13876785A>G,c.389A>G,p.E130G |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13875923G>C,c.371G>C,p.R124T |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13875842C>G,c.290C>G,p.A97G |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13875821G>T,c.269G>T,p.R90L |
| MRI1(NM_001031727,methylthioribose-1-phosphate isomerase 1,369aa) | g.19:13875421C>T,c.19C>T,p.R7C |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18195696A>C,c.893A>C,p.K298T |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18195609C>T,c.806C>T,p.P269L |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18195537A>G,c.734A>G,p.N245S |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18195348C>T,c.545C>T,p.A182V |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18195227G>A,c.424G>A,p.V142M |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18195051T>C,c.248T>C,p.L83S |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18194973G>A,c.170G>A,p.R57H |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18194964A>G,c.161A>G,p.Y54C |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18194878T>G,c.75T>G,p.N25K |
| MRGPRX4(NM_054032,MAS-related GPR, member X4,322aa) | g.11:18194827C>G,c.24C>G,p.F8L |
| MRGPRX3(NM_054031,MAS-related GPR, member X3,322aa) | g.11:18159644C>T,c.895C>T,p.P299S |
| MRGPRX3(NM_054031,MAS-related GPR, member X3,322aa) | g.11:18159641A>C,c.892A>C,p.T298P |
| MRGPRX3(NM_054031,MAS-related GPR, member X3,322aa) | g.11:18159593C>T,c.844C>T,p.Q282X |
| MRGPRX3(NM_054031,MAS-related GPR, member X3,322aa) | g.11:18159558T>A,c.809T>A,p.I270N |
| MRGPRX3(NM_054031,MAS-related GPR, member X3,322aa) | g.11:18159455T>C,c.706T>C,p.W236R |