| 基因名 | 突变 |
|---|---|
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75651482C>T,c.2110G>A,p.V704M |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75650903C>T,c.2354G>A,p.R785Q |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75650895C>T,c.2362G>A,p.A788T |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75650631G>A,c.2509C>T,p.R837W |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75650545A>C,c.2595T>G,p.F865L |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75649168C>T,c.2674G>A,p.A892T |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75648680C>T,c.2899G>A,p.V967M |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75648650C>T,c.2929G>A,p.V977I |
| MAN2C1(NM_001256494,mannosidase, alpha, class 2C, member 1,1057aa) | g.15:75648369C>T,c.3052G>A,p.D1018N |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6621751C>T,c.2912C>T,p.T971M |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6621740G>A,c.2901G>A,p.W967X |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6616056C>T,c.2675C>T,p.T892M |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6616038G>A,c.2657G>A,p.R886H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6616037C>T,c.2656C>T,p.R886C |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6616029C>T,c.2648C>T,p.P883L |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6612964C>T,c.2522C>T,p.A841V |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6612871C>T,c.2429C>T,p.T810M |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6612676C>T,c.2329C>T,p.R777W |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6611613C>T,c.2095C>T,p.R699W |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6611581C>T,c.2063C>T,p.P688L |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6611560G>A,c.2042G>A,p.R681H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6611544T>C,c.2026T>C,p.Y676H |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6611530T>C,c.2012T>C,p.M671T |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6610986C>T,c.1967C>T,p.A656V |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6610935C>T,c.1916C>T,p.P639L |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6610889G>A,c.1870G>A,p.G624R |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6607046A>G,c.1804A>G,p.I602V |
| MAN2B2(NM_015274,mannosidase, alpha, class 2B, member 2,1009aa) | g.4:6607008T>C,c.1766T>C,p.I589T |