| 基因名 | 突变 |
|---|---|
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48538908G>A,c.2300G>A,p.R767H |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48535549A>G,c.1652A>G,p.Q551R |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48533630A>C,c.1341-2A>C,p.447Acceptor |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48529104C>T,c.1087C>T,p.R363W |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48528587A>G,c.935A>G,p.E312G |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48527251C>T,c.794C>T,p.T265I |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48527122C>T,c.665C>T,p.T222M |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48526712G>A,c.512G>A,p.R171Q |
| PFKM(NM_001166686,phosphofructokinase, muscle,851aa) | g.12:48501161A>T,c.5A>T,p.H2L |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45746614G>A,c.2212G>A,p.E738K |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45746102T>C,c.2150T>C,p.V717A |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45744509G>A,c.1786G>A,p.E596K |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45744467G>A,c.1744G>A,p.V582M |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45736339G>A,c.868G>A,p.D290N |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45733867A>T,c.710A>T,p.D237V |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45732896C>T,c.463C>T,p.H155Y |
| PFKL(NM_002626,phosphofructokinase, liver,780aa) | g.21:45732043G>A,c.293G>A,p.R98H |
| PFKFB4(NM_004567,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4,469aa) | g.3:48573820G>A,c.709C>T,p.R237C |
| PFKFB4(NM_004567,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4,469aa) | g.3:48573700G>A,c.829C>T,p.R277W |
| PFKFB3(NM_004566,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3,520aa) | g.10:6268273C>T,c.1460C>T,p.S487L |
| PFKFB3(NM_004566,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3,520aa) | g.10:6268177C>T,c.1364C>T,p.P455L |
| PFKFB3(NM_004566,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3,520aa) | g.10:6263446C>T,c.934C>T,p.R312W |
| PFKFB3(NM_004566,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3,520aa) | g.10:6262818G>A,c.821G>A,p.R274Q |
| PFKFB3(NM_004566,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3,520aa) | g.10:6257192G>A,c.211G>A,p.V71I |
| PFKFB3(NM_004566,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3,520aa) | g.10:6255618G>A,c.109G>A,p.V37I |
| PFKFB2(NM_006212,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2,505aa) | g.1:207245616C>T,c.1418C>T,p.S473L |
| PFKFB2(NM_006212,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2,505aa) | g.1:207241523A>G,c.856A>G,p.R286G |
| PFKFB2(NM_006212,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2,505aa) | g.1:207241041G>A,c.830G>A,p.R277Q |