| 基因名 | 突变 |
|---|---|
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24454313T>C,c.1265A>G,p.N422S |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24454257G>A,c.1321C>T,p.L441F |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24450073C>T,c.1390G>A,p.V464M |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24448179G>A,c.1604C>T,p.P535L |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24448111C>T,c.1672G>A,p.D558N |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24447177G>A,c.1709C>T,p.T570M |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24447166C>T,c.1720G>A,p.E574K |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24437458T>C,c.2080A>G,p.M694V |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24437445G>A,c.2093C>T,p.T698I |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24436910A>G,c.2252T>C,p.I751T |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24436908C>T,c.2254G>A,p.G752R |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24436901T>C,c.2261A>G,p.E754G |
| GPKOW(NM_015698,G patch domain and KOW motifs,476aa) | g.X:48980060T>C,c.13A>G,p.K5E |
| GPKOW(NM_015698,G patch domain and KOW motifs,476aa) | g.X:48979921G>A,c.152C>T,p.T51I |
| GPKOW(NM_015698,G patch domain and KOW motifs,476aa) | g.X:48973434T>C,c.863A>G,p.Y288C |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34890922G>A,c.1691G>A,p.R564H |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34890904A>G,c.1673A>G,p.N558S |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34890838T>C,c.1607T>C,p.I536T |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34887539A>G,c.1279A>G,p.I427V |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34884835C>T,c.959C>T,p.T320M |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34884832G>A,c.956G>A,p.R319H |
| GPI(NM_001184722,glucose-6-phosphate isomerase,569aa) | g.19:34868776T>C,c.656T>C,p.I219T |
| GPIHBP1(NM_178172,glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,184aa) | g.8:144297269C>T,c.431C>T,p.S144F |
| GPIHBP1(NM_178172,glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,184aa) | g.8:144297197C>T,c.359C>T,p.T120M |
| GPIHBP1(NM_178172,glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,184aa) | g.8:144297143T>C,c.305T>C,p.L102P |
| GPIHBP1(NM_178172,glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,184aa) | g.8:144297001G>A,c.295G>A,p.E99K |
| GPIHBP1(NM_178172,glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,184aa) | g.8:144295183G>T,c.41G>T,p.C14F |
| GPHN(NM_020806,gephyrin,769aa) | g.14:67390981A>G,c.800A>G,p.N267S |