| 基因名 | 突变 |
|---|---|
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91455465C>T,c.2302C>T,p.R768C |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91455385G>A,c.2222G>A,p.R741Q |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91454665C>T,c.1994C>T,p.S665F |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91454175C>T,c.1859C>T,p.A620V |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91452720A>C,c.1360A>C,p.N454H |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91452595A>G,c.1235A>G,p.Q412R |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91452582C>T,c.1222C>T,p.R408W |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91450542C>T,c.1013C>T,p.S338L |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91449982G>A,c.848G>A,p.R283H |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91448891C>T,c.473C>T,p.P158L |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91448834C>T,c.416C>T,p.P139L |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91448822C>T,c.404C>T,p.S135L |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91448715C>T,c.367C>T,p.R123W |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91448626C>T,c.278C>T,p.T93M |
| MAN2A2(NM_006122,mannosidase, alpha, class 2A, member 2,1150aa) | g.15:91447509C>T,c.72C>T,p.L24L |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109190938C>T,c.3074C>T,p.S1025F |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109190938_109190940del,c.3074_3076del,p.1025_1026del |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109190936_109190938del,c.3072_3074del,p.1024_1025del |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109190841G>A,c.2977G>A,p.E993K |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109178098C>T,c.2636C>T,p.A879V |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109159464A>G,c.2492A>G,p.H831R |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109155490G>A,c.2230G>A,p.G744R |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109153084T>C,c.2054T>C,p.V685A |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109117167G>A,c.1445G>A,p.G482D |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109110635A>G,c.1343A>G,p.Y448C |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109106206C>T,c.1160C>T,p.P387L |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109103349G>A,c.949G>A,p.A317T |
| MAN2A1(NM_002372,mannosidase, alpha, class 2A, member 1,1144aa) | g.5:109049363A>G,c.278A>G,p.N93S |