基因名 突变
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17110639T>C,c.2756A>G,p.H919R
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17110185T>C,c.2886A>G,p.I962M
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17110177T>C,c.2894A>G,p.Q965R
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17110139G>T,c.2932C>A,p.H978N
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17088067A>G,c.3356T>C,p.L1119S
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17088032T>C,c.3391A>G,p.T1131A
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17087074C>T,c.3604G>A,p.A1202T
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17085909C>T,c.3746G>A,p.R1249H
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17061966C>T,c.4034G>A,p.R1345Q
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17026263C>T,c.4366G>A,p.D1456N
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17026209G>A,c.4420C>T,p.P1474S
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17024539G>A,c.4639C>T,p.R1547C
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:17024503G>A,c.4675C>T,p.P1559S
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16992011G>A,c.5069C>T,p.A1690V
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16990479G>A,c.5207C>T,p.S1736L
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16989271C>T,c.5305G>A,p.V1769I
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16982151G>A,c.5428C>T,p.R1810X
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16982061C>T,c.5518G>A,p.G1840S
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16979714T>C,c.5803A>G,p.S1935G
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16979606G>T,c.5911C>A,p.P1971T
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16979593G>A,c.5924C>T,p.P1975L
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16975190G>A,c.6020C>T,p.T2007M
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16975122G>A,c.6088C>T,p.R2030X
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16975121C>T,c.6089G>A,p.R2030Q
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16970239C>T,c.6188G>A,p.R2063Q
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16967586C>G,c.6459G>C,p.L2153F
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16967417T>C,c.6469A>G,p.N2157D
CUBN(NM_001081,cubilin (intrinsic factor-cobalamin receptor),3623aa) g.10:16967401C>T,c.6485G>A,p.C2162Y
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