| 基因名 | 突变 |
|---|---|
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155206037G>A,c.1223C>T,p.T408M |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155206036C>T,c.1224G>A,p.T408T |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155205568T>A,c.1292A>T,p.N431I |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155205043A>G,c.1448T>C,p.L483P |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155205008C>G,c.1483G>C,p.A495P |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155204994C>G,c.1497G>C,p.V499V |
| GBA(NM_001005741,glucosidase, beta, acid,536aa) | g.1:155204797G>A,c.1600C>T,p.R534C |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22820504A>T,c.1368A>T,p.X456Y |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749692T>C,c.1060T>C,p.C354R |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749410A>G,c.778A>G,p.I260V |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749270G>C,c.638G>C,p.R213P |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749269C>T,c.637C>T,p.R213X |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749206C>T,c.574C>T,p.Q192X |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749176G>A,c.544G>A,p.G182S |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749148G>A,c.516G>A,p.M172I |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22749008A>G,c.376A>G,p.T126A |
| GBA3(NM_020973,glucosidase, beta, acid 3 (gene/pseudogene),469aa) | g.4:22748948G>A,c.316G>A,p.D106N |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35748676A>G,c.26T>C,p.M9T |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35740937del,c.911del,p.304fs |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35740902C>T,c.946G>A,p.G316R |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35740293C>G,c.1196G>C,p.R399P |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35740287C>T,c.1202G>A,p.R401Q |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35740047C>T,c.1357G>A,p.A453T |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35740046G>T,c.1358C>A,p.A453E |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35739787C>T,c.1420G>A,p.A474T |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35739666C>T,c.1541G>A,p.R514H |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35739654C>T,c.1553G>A,p.R518Q |
| GBA2(NM_020944,glucosidase, beta (bile acid) 2,927aa) | g.9:35738146C>T,c.2201G>A,p.R734H |