| 基因名 | 突变 |
|---|---|
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104120139G>A,c.1376G>A,p.R459H |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104119139T>C,c.1124T>C,p.M375T |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104117914A>G,c.758A>G,p.N253S |
| GBF1(NM_004193,golgi brefeldin A resistant guanine nucleotide exchange factor 1,1859aa) | g.10:104117875T>C,c.719T>C,p.M240T |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81810551G>T,c.118C>A,p.P40T |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81754732A>G,c.176T>C,p.I59T |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81698130T>C,c.568A>G,p.R190G |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81698005A>G,c.691+2T>C,p.231Donor |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81695617C>G,c.708G>C,p.Q236H |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81692085C>T,c.839G>A,p.G280D |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81692065C>G,c.859G>C,p.V287L |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81691938T>C,c.986A>G,p.Y329C |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81643167T>C,c.1000A>G,p.I334V |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81640290A>C,c.1134T>G,p.S378R |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81627202C>T,c.1492G>A,p.E498K |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81627175T>C,c.1519A>G,p.T507A |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81584403T>C,c.1877A>G,p.N626S |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81548349G>A,c.1964C>T,p.A655V |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81548296C>T,c.2017G>A,p.A673T |
| GBE1(NM_000158,glucan (1,4-alpha-), branching enzyme 1,702aa) | g.3:81548278G>A,c.2035C>T,p.R679C |
| GBAS(NM_001483,glioblastoma amplified sequence,286aa) | g.7:56051449G>A,c.473G>A,p.S158N |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155210498T>C,c.38A>G,p.K13R |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155209863G>A,c.121C>T,p.R41C |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155209763C>G,c.221G>C,p.G74A |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155208006T>C,c.680A>G,p.N227S |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155207983A>G,c.703T>C,p.S235P |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155207230G>A,c.901C>T,p.R301C |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155206167C>T,c.1093G>A,p.E365K |