| 基因名 | 突变 |
|---|---|
| EEPD1(NM_030636,endonuclease/exonuclease/phosphatase family domain containing 1,569aa) | g.7:36320821G>A,c.1028G>A,p.S343N |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128127059G>A,c.1748G>A,p.R583H |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128077126G>A,c.1510G>A,p.V504M |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128060481G>T,c.1192G>T,p.A398S |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128060329G>A,c.1040G>A,p.R347Q |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128060254T>C,c.965T>C,p.I322T |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128060143G>A,c.854G>A,p.R285Q |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:128060125C>T,c.836C>T,p.S279L |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:127983506C>T,c.668C>T,p.P223L |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:127981000C>T,c.554C>T,p.A185V |
| EEFSEC(NM_021937,eukaryotic elongation factor, selenocysteine-tRNA-specific,596aa) | g.3:127872469C>A,c.119C>A,p.P40Q |
| EEF2(NM_001961,eukaryotic translation elongation factor 2,858aa) | g.19:3983270C>T,c.238G>A,p.E80K |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22291613G>A,c.1984G>A,p.E662K |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22285065C>T,c.1883C>T,p.P628L |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22285007G>A,c.1825G>A,p.D609N |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22284975T>G,c.1793T>G,p.F598C |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22278068G>T,c.1635G>T,p.E545D |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22278028G>A,c.1595G>A,p.R532H |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22277748G>A,c.1478G>A,p.R493H |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22269867A>G,c.1082A>G,p.Q361R |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22269051C>T,c.989C>T,p.P330L |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22268677C>T,c.872C>T,p.T291M |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22268604G>A,c.799G>A,p.G267S |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22268599G>A,c.794G>A,p.R265H |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22268147G>A,c.697G>A,p.E233K |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22268112C>T,c.662C>T,p.P221L |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22262513G>T,c.488G>T,p.G163V |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22260092G>A,c.364G>A,p.G122R |