| 基因名 | 突变 |
|---|---|
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88926730_88926732del,c.61_63del,p.21del |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88926639C>T,c.154G>A,p.A52T |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88913273G>C,c.407C>G,p.S136C |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88895123T>C,c.497A>G,p.Q166R |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88890410T>A,c.928A>T,p.I310L |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88885505C>T,c.1504G>A,p.D502N |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88883014T>A,c.1697A>T,p.D566V |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88882955T>A,c.1756A>T,p.I586L |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88879048C>T,c.1874G>A,p.R625H |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88876094C>T,c.2014G>A,p.E672K |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88874891C>A,c.2110G>T,p.A704S |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88874764A>G,c.2237T>C,p.M746T |
| EIF2AK3(NM_004836,eukaryotic translation initiation factor 2-alpha kinase 3,1116aa) | g.2:88874416G>A,c.2585C>T,p.T862I |
| EIF2AK2(NM_002759,eukaryotic translation initiation factor 2-alpha kinase 2,551aa) | g.2:37366860T>A,c.430A>T,p.I144F |
| EIF2AK2(NM_002759,eukaryotic translation initiation factor 2-alpha kinase 2,551aa) | g.2:37365724G>C,c.521C>G,p.S174C |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6089604C>G,c.350G>C,p.R117T |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6089547C>T,c.407G>A,p.R136H |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6088472G>A,c.415C>T,p.P139S |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6080686A>T,c.956T>A,p.L319H |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6080630T>C,c.1012A>G,p.I338V |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6080602C>T,c.1040G>A,p.R347H |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6078221G>A,c.1201C>T,p.R401W |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6066546G>A,c.1577C>T,p.P526L |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6066450T>C,c.1673A>G,p.K558R |
| EIF2AK1(NM_014413,eukaryotic translation initiation factor 2-alpha kinase 1,630aa) | g.7:6064373C>G,c.1824G>C,p.K608N |
| EIF1AD(NM_001242481,eukaryotic translation initiation factor 1A domain containing,165aa) | g.11:65767062C>T,c.281G>A,p.R94H |
| EIF1AD(NM_001242481,eukaryotic translation initiation factor 1A domain containing,165aa) | g.11:65766210T>C,c.358A>G,p.T120A |
| EIF1AD(NM_001242481,eukaryotic translation initiation factor 1A domain containing,165aa) | g.11:65766092C>T,c.476G>A,p.S159N |