| 基因名 | 突变 |
|---|---|
| TKT(NM_001135055,transketolase,623aa) | g.3:53276163T>C,c.203A>G,p.N68S |
| TKT(NM_001135055,transketolase,623aa) | g.3:53274274T>C,c.430A>G,p.K144E |
| TKT(NM_001135055,transketolase,623aa) | g.3:53269087T>C,c.541A>G,p.I181V |
| TKT(NM_001135055,transketolase,623aa) | g.3:53269028G>T,c.600C>A,p.D200E |
| TKT(NM_001135055,transketolase,623aa) | g.3:53267274C>T,c.646G>A,p.V216M |
| TKT(NM_001135055,transketolase,623aa) | g.3:53267183C>T,c.737G>A,p.R246Q |
| TKT(NM_001135055,transketolase,623aa) | g.3:53265467T>A,c.848A>T,p.K283M |
| TKT(NM_001135055,transketolase,623aa) | g.3:53263112T>C,c.1306A>G,p.M436V |
| TKT(NM_001135055,transketolase,623aa) | g.3:53262135T>A,c.1510A>T,p.T504S |
| TKT(NM_001135055,transketolase,623aa) | g.3:53262106G>C,c.1539C>G,p.H513Q |
| TKT(NM_001135055,transketolase,623aa) | g.3:53260819C>T,c.1649G>A,p.R550H |
| TKT(NM_001135055,transketolase,623aa) | g.3:53259777C>A,c.1867G>T,p.A623S |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164394805T>G,c.82A>C,p.I28L |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164394456T>C,c.431A>G,p.D144G |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164394345G>A,c.542C>T,p.A181V |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164394289C>T,c.598G>A,p.A200T |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164394270C>G,c.617G>C,p.C206S |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164394229G>A,c.658C>T,p.H220Y |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393886C>T,c.1001G>A,p.R334H |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393674G>A,c.1213C>T,p.R405X |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393508T>C,c.1379A>G,p.H460R |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393215C>T,c.1672G>A,p.G558S |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393163G>T,c.1724C>A,p.A575D |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393117T>A,c.1770A>T,p.Q590H |
| TKTL2(NM_032136,transketolase-like 2,626aa) | g.4:164393098G>A,c.1789C>T,p.P597S |
| TKTL1(NM_012253,transketolase-like 1,596aa) | g.X:153557889G>A,c.1642G>A,p.A548T |
| TKTL1(NM_012253,transketolase-like 1,596aa) | g.X:153543616A>G,c.958A>G,p.T320A |
| TKTL1(NM_012253,transketolase-like 1,596aa) | g.X:153543544G>A,c.886G>A,p.G296S |