| 基因名 | 突变 |
|---|---|
| HAAO(NM_012205,3-hydroxyanthranilate 3,4-dioxygenase,286aa) | g.2:42994784G>A,c.733C>T,p.R245C |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324819C>T,c.2267C>T,p.T756M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324711C>T,c.2159C>T,p.T720M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324486G>A,c.1934G>A,p.R645Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324363C>T,c.1811C>T,p.T604M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324338G>A,c.1786G>A,p.V596M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324294G>A,c.1742G>A,p.R581H |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324213C>T,c.1661C>T,p.P554L |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324204G>A,c.1652G>A,p.R551Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324104G>A,c.1552G>A,p.G518S |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9324078G>A,c.1526G>A,p.R509H |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323958G>A,c.1406G>A,p.R469Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323916G>A,c.1364G>A,p.R455Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323910G>A,c.1358G>A,p.R453Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323909C>T,c.1357C>T,p.R453W |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323895C>T,c.1343C>T,p.A448V |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323885G>A,c.1333G>A,p.D445N |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323870G>A,c.1318G>A,p.G440S |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323786G>A,c.1234G>A,p.V412M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323739G>A,c.1187G>A,p.R396Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323661G>A,c.1109G>A,p.R370Q |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323642G>A,c.1090G>A,p.E364K |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323606G>A,c.1054G>A,p.V352M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9323595G>A,c.1043G>A,p.R348H |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9322376C>T,c.1004C>T,p.P335L |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9322333C>T,c.961C>T,p.R321C |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9322300G>A,c.928G>A,p.V310M |
| H6PD(NM_004285,hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase),791aa) | g.1:9322273C>T,c.901C>T,p.R301W |