| 基因名 | 突变 |
|---|---|
| MANEAL(NM_001113482,mannosidase, endo-alpha-like,457aa) | g.1:38259924A>T,c.70A>T,p.M24L |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103611845C>T,c.757G>A,p.V253I |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103592551G>A,c.1117C>T,p.R373W |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103560963G>A,c.1921C>T,p.R641C |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103557077G>A,c.2102C>T,p.T701M |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103556169C>T,c.2191G>A,p.V731M |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103556114A>T,c.2246T>A,p.L749H |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103556064G>A,c.2296C>T,p.R766W |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103556009G>C,c.2351C>G,p.P784R |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103555982G>A,c.2378C>T,p.P793L |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103553383A>T,c.2471T>A,p.V824D |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103553381C>A,c.2473G>T,p.A825S |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103553372C>T,c.2482G>A,p.V828I |
| MANBA(NM_005908,mannosidase, beta A, lysosomal,879aa) | g.4:103553318T>G,c.2536A>C,p.M846L |
| MANBAL(NM_022077,mannosidase, beta A, lysosomal-like,85aa) | g.20:35929733C>T,c.67C>T,p.R23W |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75660526T>C,c.115A>G,p.S39G |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75658867G>C,c.418C>G,p.R140G |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75658862C>T,c.422+1G>A,p.141Donor |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75656531T>C,c.601-2A>G,p.201Acceptor |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75656487_75656491del,c.639_643del,p.213fs |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75656445C>T,c.685G>A,p.E229K |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75653996G>C,c.1167C>G,p.I389M |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75653655G>T,c.1286C>A,p.S429Y |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75652908G>A,c.1582C>T,p.Q528X |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75652907T>A,c.1583A>T,p.Q528L |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75652104T>C,c.1805A>G,p.H602R |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75651981G>A,c.1928C>T,p.P643L |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75651722G>C,c.2006C>G,p.P669R |