| 基因名 | 突变 |
|---|---|
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6606957G>A,c.1715G>A,p.R572H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6606921C>T,c.1679C>T,p.A560V |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6606906C>T,c.1664C>T,p.P555L |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6606864A>G,c.1622A>G,p.N541S |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6602445C>T,c.1501C>T,p.R501C |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6600015C>G,c.1339C>G,p.R447G |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6600012A>G,c.1336A>G,p.M446V |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6599928C>A,c.1252C>A,p.Q418K |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6598944C>T,c.1162C>T,p.R388C |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6598875C>T,c.1093C>T,p.R365C |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6596386del,c.984del,p.328fs |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6596386C>A,c.984C>A,p.Y328X |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6596373C>T,c.971C>T,p.T324M |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6596360G>A,c.958G>A,p.V320M |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6596345G>A,c.943G>A,p.E315K |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6595052G>A,c.833G>A,p.R278Q |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6594947A>C,c.728A>C,p.Q243P |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6590794G>A,c.587G>A,p.G196E |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6588866G>A,c.535G>A,p.D179N |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6580218G>T,c.384G>T,p.Q128H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6580124G>A,c.290G>A,p.R97H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6578446T>C,c.280T>C,p.Y94H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6578378G>A,c.212G>A,p.R71Q |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6578326G>A,c.160G>A,p.A54T |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6577049G>A,c.112G>A,p.D38N |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6577044A>G,c.107A>G,p.H36R |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12776600G>A,c.179C>T,p.P60L |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12775781T>C,c.455A>G,p.N152S |