| Genename | Variants |
|---|---|
| NA | g.X:113818520C>T |
| NA | g.X:110644170T>C |
| NA | g.X:107938631_107938632insT |
| NA | g.X:107909743del |
| NA | g.X:107865996G>T |
| NA | g.X:107865047A>G |
| NA | g.X:107863620del |
| NA | g.X:107850045_107850046insA |
| NA | g.X:107846262C>G |
| NA | g.X:107844691A>G |
| NA | g.X:107834822del |
| NA | g.X:107834821_107834822insC |
| NA | g.X:107834789A>G |
| NA | g.X:107834453T>G |
| NA | g.X:107834411C>A |
| NA | g.X:107823793del |
| NA | g.X:107819173A>G |
| NA | g.X:107815044del |
| NA | g.X:107396958A>G |
| NA | g.X:103268241G>A |
| NA | g.X:103031893C>T |
| NA | g.X:100662921C>T |
| NA | g.X:100662903C>T |
| NA | g.X:100662901G>A |
| NA | g.X:100630121G>A |
| NAGS(NM_153006,N-acetylglutamate synthase,534aa) | g.17:42083921G>A,c.940G>A,p.A314T |
| NAGS(NM_153006,N-acetylglutamate synthase,534aa) | g.17:42083539del,c.849del,p.283fs |
| NAGS(NM_153006,N-acetylglutamate synthase,534aa) | g.17:42082405C>A,c.374C>A,p.T125K |