基因名 突变
HNRNPCL1(NM_001013631,heterogeneous nuclear ribonucleoprotein C-like 1,293aa) g.1:12907284T>C,c.859A>G,p.T287A
HNRNPAB(NM_031266,heterogeneous nuclear ribonucleoprotein A/B,332aa) g.5:177633872A>T,c.518A>T,p.Y173F
HNRNPA2B1(NM_031243,heterogeneous nuclear ribonucleoprotein A2/B1,353aa) g.7:26236069C>T,c.646G>A,p.G216S
HNRNPA1(NM_031157,heterogeneous nuclear ribonucleoprotein A1,372aa) g.12:54676958G>A,c.847G>A,p.G283R
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53217493A>G,c.866A>G,p.Y289C
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53217456del,c.829del,p.277fs
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53217409A>G,c.782A>G,p.N261S
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53217400G>A,c.773G>A,p.G258E
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53217270A>G,c.643A>G,p.N215D
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53216784C>T,c.157C>T,p.R53C
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53216743C>T,c.116C>T,p.T39M
HNRNPA1L2(NM_001011724,heterogeneous nuclear ribonucleoprotein A1-like 2,320aa) g.13:53216702del,c.75del,p.25fs
HNRNPA0(NM_006805,heterogeneous nuclear ribonucleoprotein A0,305aa) g.5:137089197C>T,c.559G>A,p.G187S
HNRNPA0(NM_006805,heterogeneous nuclear ribonucleoprotein A0,305aa) g.5:137088945C>T,c.811G>A,p.G271S
HNRNPA0(NM_006805,heterogeneous nuclear ribonucleoprotein A0,305aa) g.5:137088945_137088946insGCT,c.810_811insAGC,p.270_271ins1aa
HNMT(NM_006895,histamine N-methyltransferase,292aa) g.2:138771380G>A,c.559G>A,p.G187R
HNMT(NM_006895,histamine N-methyltransferase,292aa) g.2:138762747C>T,c.475C>T,p.H159Y
HNMT(NM_006895,histamine N-methyltransferase,292aa) g.2:138759649C>T,c.314C>T,p.T105I
HNMT(NM_006895,histamine N-methyltransferase,292aa) g.2:138758524C>T,c.227C>T,p.A76V
HNMT(NM_006895,histamine N-methyltransferase,292aa) g.2:138722063T>C,c.2T>C,p.M1T
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76472588A>G,c.1103A>G,p.N368S
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76471246A>G,c.1067A>G,p.N356S
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76471150A>G,c.971A>G,p.E324G
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76468282G>A,c.681G>A,p.M227I
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76463718C>T,c.448C>T,p.R150W
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76463664A>C,c.394A>C,p.T132P
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76463653C>A,c.383C>A,p.T128N
HNF4G(NM_004133,hepatocyte nuclear factor 4, gamma,445aa) g.8:76452313G>A,c.86G>A,p.S29N
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