| 基因名 | 突变 |
|---|---|
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52550590G>A,c.4273G>A,p.D1425N |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52550437G>A,c.4210G>A,p.V1404M |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52548787C>T,c.3749C>T,p.S1250L |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52548768C>T,c.3730C>T,p.R1244C |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52548441C>T,c.3607C>T,p.R1203W |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52547929G>C,c.3379G>C,p.G1127R |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52547252A>G,c.3265A>G,p.S1089G |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52547190G>A,c.3203G>A,p.R1068Q |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52546911G>A,c.3095G>A,p.R1032H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52546872G>A,c.3056G>A,p.R1019H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52546403C>A,c.2930C>A,p.P977H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52544470A>G,c.2734A>G,p.M912V |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52543906C>A,c.2368C>A,p.L790I |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52540843G>A,c.1966G>A,p.E656K |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52540769A>G,c.1892A>G,p.N631S |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52540204A>C,c.1768A>C,p.I590L |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52538536G>A,c.1210G>A,p.V404I |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52538079G>A,c.1058G>A,p.R353H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52537408C>T,c.743C>T,p.S248L |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52535766C>T,c.328C>T,p.H110Y |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52535760C>T,c.322C>T,p.R108W |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52535285G>C,c.182G>C,p.R61P |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52535246C>T,c.143C>T,p.A48V |
| ST8SIA6(NM_001004470,ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6,398aa) | g.10:17496164C>T,c.91G>A,p.G31S |
| ST8SIA6(NM_001004470,ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6,398aa) | g.10:17495619T>A,c.139A>T,p.T47S |
| ST8SIA6(NM_001004470,ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6,398aa) | g.10:17432536G>A,c.284C>T,p.T95M |
| ST8SIA6(NM_001004470,ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6,398aa) | g.10:17365146G>A,c.646C>T,p.P216S |
| ST8SIA6(NM_001004470,ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6,398aa) | g.10:17365145G>A,c.647C>T,p.P216L |