| 基因名 | 突变 |
|---|---|
| GLDC(NM_000170,glycine dehydrogenase (decarboxylating),1020aa) | g.9:6554781C>A,c.2203G>T,p.V735L |
| GLDC(NM_000170,glycine dehydrogenase (decarboxylating),1020aa) | g.9:6553445C>T,c.2380G>A,p.A794T |
| GLDC(NM_000170,glycine dehydrogenase (decarboxylating),1020aa) | g.9:6534775G>T,c.2852C>A,p.S951Y |
| GLDC(NM_000170,glycine dehydrogenase (decarboxylating),1020aa) | g.9:6534764C>T,c.2863G>A,p.V955I |
| GLCE(NM_015554,glucuronic acid epimerase,617aa) | g.15:69561518G>A,c.1789G>A,p.V597I |
| GLCE(NM_015554,glucuronic acid epimerase,617aa) | g.15:69561200A>G,c.1471A>G,p.M491V |
| GLCE(NM_015554,glucuronic acid epimerase,617aa) | g.15:69553615C>T,c.776C>T,p.A259V |
| GLCE(NM_015554,glucuronic acid epimerase,617aa) | g.15:69548597G>A,c.452G>A,p.R151Q |
| GLCE(NM_015554,glucuronic acid epimerase,617aa) | g.15:69548338A>G,c.193A>G,p.M65V |
| GLCCI1(NM_138426,glucocorticoid induced transcript 1,547aa) | g.7:8126004G>A,c.1480G>A,p.V494I |
| GLCCI1(NM_138426,glucocorticoid induced transcript 1,547aa) | g.7:8099798C>A,c.886C>A,p.P296T |
| GLCCI1(NM_138426,glucocorticoid induced transcript 1,547aa) | g.7:8043538C>T,c.458C>T,p.A153V |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33138549G>A,c.29C>T,p.P10L |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33110383G>A,c.325C>T,p.R109W |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33099691C>T,c.623G>A,p.R208H |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33093405T>C,c.884A>G,p.D295G |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33059981G>A,c.1306C>T,p.L436F |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33059977T>C,c.1310A>G,p.N437S |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33055721A>G,c.1561T>C,p.C521R |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33055688T>C,c.1594A>G,p.S532G |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33055642G>A,c.1640C>T,p.T547M |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33055567T>C,c.1715A>G,p.Q572R |
| GLB1(NM_000404,galactosidase, beta 1,677aa) | g.3:33038787C>T,c.1784G>A,p.R595Q |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220107997G>A,c.112C>T,p.R38W |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220107975G>A,c.134C>T,p.P45L |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220107531T>C,c.349A>G,p.I117V |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220107290G>A,c.397C>T,p.L133F |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220104686C>A,c.677G>T,p.C226F |