| 基因名 | 突变 |
|---|---|
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714980C>T,c.1387C>T,p.P463S |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714929A>G,c.1336A>G,p.I446V |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714881A>C,c.1288A>C,p.T430P |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714351T>G,c.758T>G,p.L253W |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714242G>A,c.649G>A,p.E217K |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714237A>G,c.644A>G,p.K215R |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38714185G>A,c.592G>A,p.G198R |
| ALG10B(NM_001013620,ALG10B, alpha-1,2-glucosyltransferase,473aa) | g.12:38712142C>G,c.251C>G,p.A84G |
| ALDOC(NM_005165,aldolase C, fructose-bisphosphate,364aa) | g.17:26902534G>A,c.17C>T,p.P6L |
| ALDOC(NM_005165,aldolase C, fructose-bisphosphate,364aa) | g.17:26902487G>A,c.64C>T,p.R22W |
| ALDOC(NM_005165,aldolase C, fructose-bisphosphate,364aa) | g.17:26901853C>T,c.401G>A,p.R134H |
| ALDOC(NM_005165,aldolase C, fructose-bisphosphate,364aa) | g.17:26900862G>A,c.890C>T,p.A297V |
| ALDOC(NM_005165,aldolase C, fructose-bisphosphate,364aa) | g.17:26900817T>C,c.935A>G,p.N312S |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104192224C>T,c.137G>A,p.R46K |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104189856C>G,c.448G>C,p.A150P |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104188842C>G,c.619G>C,p.E207Q |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104187759G>A,c.775C>T,p.R259C |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104187321A>T,c.803T>A,p.I268N |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104187132C>A,c.992G>T,p.R331L |
| ALDOB(NM_000035,aldolase B, fructose-bisphosphate,364aa) | g.9:104184173G>A,c.1013C>T,p.A338V |
| ALDOA(NM_000034,aldolase A, fructose-bisphosphate,364aa) | g.16:30081513G>A,c.1075G>A,p.V359I |
| ALDOA(NM_000034,aldolase A, fructose-bisphosphate,364aa) | g.16:30081477G>A,c.1039G>A,p.G347S |
| ALDOA(NM_000034,aldolase A, fructose-bisphosphate,364aa) | g.16:30080931C>T,c.736C>T,p.H246Y |
| ALDOA(NM_000034,aldolase A, fructose-bisphosphate,364aa) | g.16:30079979G>A,c.337G>A,p.V113M |
| ALDOA(NM_000034,aldolase A, fructose-bisphosphate,364aa) | g.16:30078860G>A,c.202G>A,p.D68N |
| ALDOA(NM_000034,aldolase A, fructose-bisphosphate,364aa) | g.16:30078639C>T,c.64C>T,p.R22C |
| ALDH9A1(NM_000696,aldehyde dehydrogenase 9 family, member A1,518aa) | g.1:165667795T>G,c.1A>C,p.M1L |
| ALDH9A1(NM_000696,aldehyde dehydrogenase 9 family, member A1,518aa) | g.1:165667711T>C,c.85A>G,p.T29A |