| 基因名 | 突变 |
|---|---|
| MANSC4(NM_001146221,MANSC domain containing 4,340aa) | g.12:27916164G>A,c.530C>T,p.T177I |
| MANSC4(NM_001146221,MANSC domain containing 4,340aa) | g.12:27916161G>A,c.533C>T,p.T178M |
| MANSC4(NM_001146221,MANSC domain containing 4,340aa) | g.12:27915795C>G,c.899G>C,p.C300S |
| MANSC4(NM_001146221,MANSC domain containing 4,340aa) | g.12:27915718A>T,c.976T>A,p.S326T |
| MANSC4(NM_001146221,MANSC domain containing 4,340aa) | g.12:27915699C>T,c.995G>A,p.R332H |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12496104T>C,c.145A>G,p.I49V |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12496086C>T,c.163G>A,p.V55I |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12491405C>T,c.313G>A,p.A105T |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483802G>A,c.455C>T,p.P152L |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483764C>T,c.493G>A,p.D165N |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483418G>A,c.839C>T,p.T280M |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483242T>C,c.1015A>G,p.T339A |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483193G>A,c.1064C>T,p.A355V |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483134T>A,c.1123A>T,p.N375Y |
| MANSC1(NM_018050,MANSC domain containing 1,431aa) | g.12:12483019C>T,c.1238G>A,p.R413H |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96054262G>A,c.1370G>A,p.R457H |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96054193T>G,c.1301T>G,p.L434R |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96054069C>T,c.1177C>T,p.R393C |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96053922T>A,c.1030T>A,p.F344I |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96053695A>G,c.803A>G,p.Y268C |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96034844C>T,c.529C>T,p.R177C |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96034806G>A,c.491G>A,p.R164Q |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96034680A>G,c.365A>G,p.H122R |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96034560C>T,c.245C>T,p.T82I |
| MANEA(NM_024641,mannosidase, endo-alpha,462aa) | g.6:96034380T>G,c.65T>G,p.L22R |
| MANEAL(NM_001113482,mannosidase, endo-alpha-like,457aa) | g.1:38265589T>C,c.1088T>C,p.I363T |
| MANEAL(NM_001113482,mannosidase, endo-alpha-like,457aa) | g.1:38265258T>C,c.757T>C,p.F253L |
| MANEAL(NM_001113482,mannosidase, endo-alpha-like,457aa) | g.1:38262492C>T,c.737C>T,p.T246M |