| 基因名 | 突变 |
|---|---|
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96389603C>T,c.86G>A,p.R29Q |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96389598C>T,c.91G>A,p.A31T |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96387767T>C,c.421A>G,p.T141A |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96386487G>A,c.686C>T,p.T229I |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96384302G>T,c.724C>A,p.L242M |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96379914C>T,c.1076G>A,p.R359H |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96379723C>T,c.1169G>A,p.R390H |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96377687A>G,c.1287+2T>C,p.429Donor |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96374614C>T,c.1315G>A,p.V439I |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96371846G>T,c.1530C>A,p.N510K |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96371782C>T,c.1594G>A,p.V532I |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96371767A>G,c.1609T>C,p.W537R |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96371731C>T,c.1645G>A,p.V549M |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96370415G>A,c.1724C>T,p.P575L |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96368051G>A,c.1933C>T,p.H645Y |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96368033T>C,c.1951A>G,p.I651V |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1872922C>G,c.49G>C,p.V17L |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1872341C>T,c.130G>A,p.G44R |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1869987C>T,c.199G>A,p.V67I |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1869974G>A,c.212C>T,p.S71L |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1869944C>T,c.242G>A,p.R81H |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1869158C>T,c.355G>A,p.V119M |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1867236T>C,c.434A>G,p.Y145C |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1866947G>A,c.550C>T,p.R184C |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1866946C>T,c.551G>A,p.R184H |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1859819C>T,c.619G>A,p.G207R |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1859375G>A,c.692C>T,p.T231M |
| HAGH(NM_001040427,hydroxyacylglutathione hydrolase,260aa) | g.16:1859342A>G,c.725T>C,p.V242A |