基因名 突变
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65253450G>A,c.3233C>T,p.S1078F
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65253349C>T,c.3334G>A,p.G1112R
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65253288G>A,c.3395C>T,p.T1132M
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65253232T>C,c.3451A>G,p.N1151D
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65252608C>T,c.3623G>A,p.R1208Q
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65250993T>C,c.3974A>G,p.H1325R
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65249153T>C,c.4121A>G,p.H1374R
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65249066C>T,c.4208G>A,p.R1403Q
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65249052C>G,c.4222G>C,p.G1408R
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65246540C>T,c.4376G>A,p.R1459Q
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65242015T>C,c.4670A>G,p.E1557G
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65242013G>A,c.4672C>T,p.R1558C
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65241986C>G,c.4699G>C,p.D1567H
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65241848G>A,c.4837C>T,p.P1613S
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65241196C>T,c.4892G>A,p.R1631H
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65239969G>A,c.5147C>T,p.P1716L
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65237750G>A,c.5651C>T,p.A1884V
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65237721C>T,c.5680G>A,p.G1894R
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65237651G>A,c.5750C>T,p.S1917F
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65236330C>T,c.5915G>A,p.R1972Q
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65235833G>C,c.5941C>G,p.R1981G
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65235832C>T,c.5942G>A,p.R1981H
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65234048A>G,c.6242T>C,p.I2081T
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65220373C>T,c.6484G>A,p.E2162K
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65220358C>T,c.6499G>A,p.A2167T
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65220354G>A,c.6503C>T,p.T2168M
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65220342G>A,c.6515C>T,p.P2172L
SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) g.14:65216760T>C,c.6715A>G,p.R2239G
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