| 基因名 | 突变 |
|---|---|
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78091513G>A,c.2446G>A,p.V816I |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78091448G>A,c.2381G>A,p.R794H |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78091405G>A,c.2338G>A,p.V780I |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78090815G>C,c.2238G>C,p.W746C |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78087041G>A,c.2065G>A,p.E689K |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78086721C>A,c.1935C>A,p.D645E |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78085871G>A,c.1726G>A,p.G576S |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78084749G>A,c.1561G>A,p.E521K |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78083760G>C,c.1343G>C,p.S448T |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78082625G>A,c.1324G>A,p.V442M |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78082599A>G,c.1298A>G,p.Q433R |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78082587A>G,c.1286A>G,p.Q429R |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78082566G>A,c.1265G>A,p.R422Q |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78082336G>A,c.1124G>A,p.R375H |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78081602G>A,c.862G>A,p.G288S |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78081415C>T,c.752C>T,p.S251L |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78079669G>A,c.668G>A,p.R223H |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78079665G>A,c.664G>A,p.V222M |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78079597A>G,c.596A>G,p.H199R |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78078656G>A,c.271G>A,p.D91N |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78078642C>G,c.257C>G,p.P86R |
| GAA(NM_000152,glucosidase, alpha; acid,952aa) | g.17:78078452A>G,c.67A>G,p.T23A |
| G6PD(NM_000402,glucose-6-phosphate dehydrogenase,545aa) | g.X:153775009C>T,c.77G>A,p.S26N |
| G6PD(NM_000402,glucose-6-phosphate dehydrogenase,545aa) | g.X:153774276T>C,c.185A>G,p.H62R |
| G6PD(NM_000402,glucose-6-phosphate dehydrogenase,545aa) | g.X:153764217C>T,c.292G>A,p.V98M |
| G6PD(NM_000402,glucose-6-phosphate dehydrogenase,545aa) | g.X:153763492T>C,c.466A>G,p.N156D |
| G6PD(NM_000402,glucose-6-phosphate dehydrogenase,545aa) | g.X:153763476C>A,c.482G>T,p.G161V |
| G6PD(NM_000402,glucose-6-phosphate dehydrogenase,545aa) | g.X:153763391C>G,c.567G>C,p.M189I |