| 基因名 | 突变 |
|---|---|
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12774562G>A,c.718C>T,p.R240W |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12774561C>T,c.719G>A,p.R240Q |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12774532C>A,c.748G>T,p.A250S |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12774208G>C,c.832C>G,p.L278V |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12774196G>A,c.844C>T,p.P282S |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12772178G>A,c.922C>T,p.R308C |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12772165G>A,c.935C>T,p.T312I |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12772090C>T,c.1010G>A,p.R337Q |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12769064C>T,c.1204G>A,p.E402K |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12768948T>C,c.1238A>G,p.N413S |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12767849C>A,c.1441G>T,p.A481S |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12766542C>A,c.1796G>T,p.R599I |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12763255T>C,c.1850A>G,p.D617G |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12763007G>A,c.2006C>T,p.P669L |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12760773C>T,c.2221G>A,p.G741R |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12760734C>T,c.2260G>A,p.E754K |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12759982T>C,c.2404A>G,p.S802G |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12759152G>A,c.2501C>T,p.S834L |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12758086G>A,c.2884C>T,p.R962C |
| MAN2B1(NM_000528,mannosidase, alpha, class 2B, member 1,1011aa) | g.19:12757477C>T,c.2993G>A,p.R998H |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91463000C>T,c.3436C>T,p.R1146C |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91462950C>T,c.3386C>T,p.P1129L |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91461571C>A,c.3142C>A,p.L1048M |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91461545G>A,c.3116G>A,p.R1039H |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91459475G>A,c.2983G>A,p.V995M |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91459466C>T,c.2974C>T,p.R992W |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91456607A>G,c.2689A>G,p.I897V |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91456590A>G,c.2672A>G,p.D891G |