| 基因名 | 突变 |
|---|---|
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24572780C>G,c.1530C>G,p.H510Q |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24572431C>T,c.1435C>T,p.R479C |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24572375C>T,c.1379C>T,p.P460L |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24571977G>A,c.1250G>A,p.C417Y |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24569423G>T,c.1234+1G>T,p.412Donor |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24569267C>T,c.1079C>T,p.T360I |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24568441T>C,c.848T>C,p.M283T |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24568405G>A,c.812G>A,p.R271Q |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24568392C>T,c.799C>T,p.R267C |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24568341G>A,c.748G>A,p.G250S |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24568323C>T,c.730C>T,p.R244W |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24567519G>A,c.383G>A,p.R128H |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24567504C>T,c.368C>T,p.P123L |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24567498A>C,c.362A>C,p.Q121P |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24567422C>T,c.286C>T,p.R96C |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24566322G>A,c.251G>A,p.R84Q |
| PCK2(NM_004563,phosphoenolpyruvate carboxykinase 2 (mitochondrial),640aa) | g.14:24566139C>G,c.68C>G,p.S23X |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140816G>A,c.1825G>A,p.E609K |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140798G>A,c.1807G>A,p.D603N |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140768G>A,c.1777G>A,p.E593K |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140711A>G,c.1720A>G,p.M574V |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140669A>C,c.1678A>C,p.K560Q |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140462G>A,c.1471G>A,p.G491S |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140439G>A,c.1448G>A,p.R483Q |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140150C>T,c.1373C>T,p.A458V |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56140132A>G,c.1355A>G,p.H452R |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56139562C>T,c.1211C>T,p.S404L |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56139365G>A,c.1102G>A,p.V368I |