| 基因名 | 突变 |
|---|---|
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22237273C>G,c.223C>G,p.P75A |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22237118A>G,c.68A>G,p.H23R |
| EEF2K(NM_013302,eukaryotic elongation factor-2 kinase,725aa) | g.16:22237075C>T,c.25C>T,p.R9C |
| EEF1G(NM_001404,eukaryotic translation elongation factor 1 gamma,437aa) | g.11:62338572C>A,c.387G>T,p.E129D |
| EEF1E1(NM_004280,eukaryotic translation elongation factor 1 epsilon 1,174aa) | g.6:8097621T>C,c.167A>G,p.N56S |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144672164G>T,c.88C>A,p.H30N |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144672143C>A,c.109G>T,p.A37S |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144672047C>T,c.205G>A,p.G69S |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144672035C>T,c.217G>A,p.D73N |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671956G>A,c.296C>T,p.A99V |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671905G>A,c.347C>T,p.S116L |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671848T>C,c.404A>G,p.Q135R |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671749G>A,c.503C>T,p.S168F |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671685G>C,c.567C>G,p.D189E |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671674C>G,c.578G>C,p.R193T |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671456C>T,c.796G>A,p.G266S |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671390G>A,c.862C>T,p.R288W |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671357G>C,c.895C>G,p.P299A |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144671194C>T,c.1058G>A,p.R353Q |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144668958C>T,c.1156G>A,p.D386N |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144663480A>G,c.1306T>C,p.S436P |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144662894C>T,c.1492G>A,p.V498I |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144662765G>A,c.1621C>T,p.R541W |
| EEF1D(NM_032378,eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein),647aa) | g.8:144662251C>A,c.1836G>T,p.Q612H |
| EEF1B2(NM_001959,eukaryotic translation elongation factor 1 beta 2,225aa) | g.2:207027600A>G,c.671A>G,p.K224R |
| EEF1B2(NM_001959,eukaryotic translation elongation factor 1 beta 2,225aa) | g.2:207027597A>G,c.668A>G,p.N223S |
| EEF1B2(NM_001959,eukaryotic translation elongation factor 1 beta 2,225aa) | g.2:207026131G>A,c.265G>A,p.G89R |
| EED(NM_152991,embryonic ectoderm development,400aa) | g.11:85956314A>G,c.43A>G,p.M15V |