基因名 突变
EIF2A(NM_032025,eukaryotic translation initiation factor 2A, 65kDa,585aa) g.3:150285710A>T,c.571A>T,p.S191C
EIF2A(NM_032025,eukaryotic translation initiation factor 2A, 65kDa,585aa) g.3:150281340C>T,c.331C>T,p.L111F
EIF2A(NM_032025,eukaryotic translation initiation factor 2A, 65kDa,585aa) g.3:150280445C>G,c.290C>G,p.T97S
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40313144G>T,c.4218G>T,p.Q1406H
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40309363T>G,c.3985T>G,p.F1329V
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40309357A>G,c.3979A>G,p.I1327V
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40308859G>T,c.3916G>T,p.G1306C
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40303495C>T,c.3707C>T,p.T1236M
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40300349A>G,c.3529A>G,p.I1177V
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40300254C>T,c.3434C>T,p.P1145L
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40294963C>G,c.3209C>G,p.T1070S
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40284406G>C,c.2662G>C,p.D888H
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40282507_40282508insT,c.2560_2561insT,p.854fs
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40280244A>G,c.2464A>G,p.T822A
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40269017C>G,c.2221C>G,p.H741D
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40269010G>C,c.2214G>C,p.E738D
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40268998G>C,c.2202G>C,p.E734D
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40268992T>G,c.2196T>G,p.D732E
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40265799A>G,c.1667A>G,p.E556G
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40265116T>C,c.1561T>C,p.C521R
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40260002G>A,c.1475G>A,p.S492N
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40259975G>A,c.1448G>A,p.R483H
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40259848A>C,c.1321A>C,p.I441L
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40259783A>G,c.1256A>G,p.N419S
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40254097A>G,c.856A>G,p.I286V
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40247945G>A,c.719G>A,p.R240Q
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40247894C>G,c.668C>G,p.A223G
EIF2AK4(NM_001013703,eukaryotic translation initiation factor 2 alpha kinase 4,1649aa) g.15:40246136G>A,c.545G>A,p.R182K
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org