| 基因名 | 突变 |
|---|---|
| HAGHL(NM_032304,hydroxyacylglutathione hydrolase-like,282aa) | g.16:779430C>A,c.823C>A,p.L275I |
| HAGHL(NM_032304,hydroxyacylglutathione hydrolase-like,282aa) | g.16:779061G>A,c.653G>A,p.R218H |
| HAGHL(NM_032304,hydroxyacylglutathione hydrolase-like,282aa) | g.16:778873G>C,c.578G>C,p.R193T |
| HAGHL(NM_032304,hydroxyacylglutathione hydrolase-like,282aa) | g.16:778857T>C,c.562T>C,p.C188R |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108953492C>T,c.719C>T,p.T240M |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108953487C>G,c.714C>G,p.F238L |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108948850C>A,c.643C>A,p.P215T |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108940732G>T,c.456G>T,p.Q152H |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108935600T>G,c.275T>G,p.F92C |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108931039T>C,c.257T>C,p.L86P |
| HADH(NM_001184705,hydroxyacyl-CoA dehydrogenase,331aa) | g.4:108911187C>G,c.99C>G,p.I33M |
| HADHB(NM_001281513,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit,452aa) | g.2:26502880A>G,c.764A>G,p.K255R |
| HADHB(NM_001281513,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit,452aa) | g.2:26501599A>G,c.494A>G,p.N165S |
| HADHB(NM_001281513,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit,452aa) | g.2:26501547G>A,c.442G>A,p.D148N |
| HADHB(NM_001281513,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit,452aa) | g.2:26496587A>G,c.257A>G,p.Q86R |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26457113T>C,c.425A>G,p.N142S |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26453084C>G,c.652G>C,p.V218L |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26432662G>T,c.1072C>A,p.Q358K |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26420574T>C,c.1465A>G,p.K489E |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26418053C>G,c.1528G>C,p.E510Q |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26416488T>C,c.1843A>G,p.N615D |
| HADHA(NM_000182,hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit,763aa) | g.2:26414216C>T,c.2195G>A,p.R732Q |
| HACL1(NM_012260,2-hydroxyacyl-CoA lyase 1,578aa) | g.3:15637903T>A,c.215A>T,p.Y72F |
| HACL1(NM_012260,2-hydroxyacyl-CoA lyase 1,578aa) | g.3:15628064T>C,c.427A>G,p.S143G |
| HACL1(NM_012260,2-hydroxyacyl-CoA lyase 1,578aa) | g.3:15628040T>A,c.451A>T,p.I151F |
| HACL1(NM_012260,2-hydroxyacyl-CoA lyase 1,578aa) | g.3:15614707C>T,c.952G>A,p.A318T |
| HACL1(NM_012260,2-hydroxyacyl-CoA lyase 1,578aa) | g.3:15610083G>A,c.1106C>T,p.S369F |
| HACL1(NM_012260,2-hydroxyacyl-CoA lyase 1,578aa) | g.3:15609973G>A,c.1216C>T,p.R406W |