| 基因名 | 突变 |
|---|---|
| GGH(NM_003878,gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase),318aa) | g.8:63936667T>C,c.578A>G,p.N193S |
| GGH(NM_003878,gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase),318aa) | g.8:63936659T>C,c.586A>G,p.K196E |
| GGH(NM_003878,gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase),318aa) | g.8:63936547T>C,c.616A>G,p.M206V |
| GGH(NM_003878,gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase),318aa) | g.8:63928009C>T,c.839G>A,p.R280Q |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85785695C>T,c.407G>A,p.R136Q |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85781325G>C,c.830C>G,p.S277C |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85780568C>G,c.942G>C,p.E314D |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85780536C>T,c.974G>A,p.R325Q |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85779600C>T,c.1378G>A,p.V460I |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85779052G>A,c.1492C>T,p.R498C |
| GGCX(NM_000821,gamma-glutamyl carboxylase,758aa) | g.2:85777856G>T,c.1906C>A,p.P636T |
| GGCT(NM_001199815,gamma-glutamylcyclotransferase,166aa) | g.7:30536816C>T,c.479G>A,p.R160H |
| GGACT(NM_033110,gamma-glutamylamine cyclotransferase,153aa) | g.13:101184775G>T,c.71C>A,p.A24D |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73240737C>T,c.47G>A,p.R16H |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73239165del,c.291del,p.97fs |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73238509C>G,c.439G>C,p.E147Q |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73238508T>C,c.440A>G,p.E147G |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73237106T>C,c.763A>G,p.I255V |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73236929C>T,c.940G>A,p.A314T |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73236005A>G,c.1232T>C,p.L411S |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73235099C>T,c.1630G>A,p.E544K |
| GGA3(NM_001172703,golgi-associated, gamma adaptin ear containing, ARF binding protein 3,651aa) | g.17:73234460C>T,c.1856G>A,p.R619Q |
| GGA2(NM_015044,golgi-associated, gamma adaptin ear containing, ARF binding protein 2,613aa) | g.16:23504719G>C,c.313C>G,p.R105G |
| GGA2(NM_015044,golgi-associated, gamma adaptin ear containing, ARF binding protein 2,613aa) | g.16:23503040C>T,c.433G>A,p.D145N |
| GGA2(NM_015044,golgi-associated, gamma adaptin ear containing, ARF binding protein 2,613aa) | g.16:23492022C>T,c.950G>A,p.R317Q |
| GGA2(NM_015044,golgi-associated, gamma adaptin ear containing, ARF binding protein 2,613aa) | g.16:23489711C>G,c.1270G>C,p.A424P |
| GGA2(NM_015044,golgi-associated, gamma adaptin ear containing, ARF binding protein 2,613aa) | g.16:23479011C>T,c.1742G>A,p.R581H |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38028125_38028126insC,c.1432_1433insC,p.478fs |