基因名 突变
FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) g.9:35107625G>A,c.647C>T,p.S216F
FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) g.9:35107455T>C,c.817A>G,p.T273A
FAM214B(NM_025182,family with sequence similarity 214, member B,538aa) g.9:35106369G>T,c.1098C>A,p.H366Q
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52903786C>G,c.390G>C,p.E130D
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52903772T>C,c.404A>G,p.Q135R
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52902491A>G,c.620T>C,p.V207A
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52902071G>C,c.1040C>G,p.S347C
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901988C>G,c.1123G>C,p.A375P
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901882C>T,c.1229G>A,p.R410Q
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901865C>T,c.1246G>A,p.E416K
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901753C>T,c.1358G>A,p.R453Q
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901433C>T,c.1678G>A,p.V560I
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901321G>A,c.1790C>T,p.T597M
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901283T>C,c.1828A>G,p.T610A
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52901109T>C,c.2002A>G,p.K668E
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52885874C>G,c.2709G>C,p.E903D
FAM214A(NM_019600,family with sequence similarity 214, member A,1076aa) g.15:52874488A>T,c.3094T>A,p.S1032T
FAM213B(NM_001195736,family with sequence similarity 213, member B,246aa) g.1:2519875C>T,c.511C>T,p.R171C
FAM213A(NM_001243780,family with sequence similarity 213, member A,229aa) g.10:82191760C>T,c.595C>T,p.R199X
FAM213A(NM_001243780,family with sequence similarity 213, member A,229aa) g.10:82187211T>C,c.535T>C,p.F179L
FAM213A(NM_001243780,family with sequence similarity 213, member A,229aa) g.10:82187167G>A,c.491G>A,p.R164Q
FAM213A(NM_001243780,family with sequence similarity 213, member A,229aa) g.10:82180329G>A,c.106G>A,p.V36M
FAM212B(NM_019099,family with sequence similarity 212, member B,297aa) g.1:112270041C>T,c.443G>A,p.R148Q
FAM212B(NM_019099,family with sequence similarity 212, member B,297aa) g.1:112269930C>T,c.554G>A,p.G185E
FAM212B(NM_019099,family with sequence similarity 212, member B,297aa) g.1:112269819C>T,c.665G>A,p.R222H
FAM212B(NM_019099,family with sequence similarity 212, member B,297aa) g.1:112269780G>A,c.704C>T,p.P235L
FAM212B(NM_019099,family with sequence similarity 212, member B,297aa) g.1:112269688C>T,c.796G>A,p.G266R
FAM212A(NM_203370,family with sequence similarity 212, member A,287aa) g.3:49842193G>A,c.637G>A,p.G213R
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