基因名 突变
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12277199G>A,c.590G>A,p.R197Q
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12277150G>A,c.541G>A,p.A181T
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12274246G>A,c.485G>A,p.R162Q
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12274200G>A,c.439G>A,p.V147M
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12274155G>A,c.394G>A,p.D132N
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12274104G>T,c.343G>T,p.V115F
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12262871C>A,c.86C>A,p.P29Q
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12254395C>T,c.13C>T,p.R5W
CIDEA(NM_001279,cell death-inducing DFFA-like effector a,219aa) g.18:12254392G>C,c.10G>C,p.A4P
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42796852T>A,c.3310T>A,p.S1104T
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42795597C>T,c.2677C>T,p.P893S
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42795492C>T,c.2572C>T,p.P858S
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42795269del,c.2349del,p.783fs
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42795144C>T,c.2224C>T,p.P742S
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42795025A>G,c.2105A>G,p.N702S
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42794899C>T,c.1979C>T,p.P660L
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42794686G>A,c.1766G>A,p.R589Q
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42791505G>T,c.486G>T,p.L162F
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42791482A>G,c.463A>G,p.I155V
CIC(NM_015125,capicua transcriptional repressor,1608aa) g.19:42791286G>T,c.346G>T,p.V116L
CIB4(NM_001029881,calcium and integrin binding family member 4,185aa) g.2:26818167G>A,c.205C>T,p.R69C
CIB4(NM_001029881,calcium and integrin binding family member 4,185aa) g.2:26806686C>T,c.409G>A,p.E137K
CIB4(NM_001029881,calcium and integrin binding family member 4,185aa) g.2:26805757T>C,c.463A>G,p.N155D
CIB4(NM_001029881,calcium and integrin binding family member 4,185aa) g.2:26804247T>C,c.542A>G,p.H181R
CIB3(NM_054113,calcium and integrin binding family member 3,187aa) g.19:16280544T>C,c.95A>G,p.Y32C
CIB3(NM_054113,calcium and integrin binding family member 3,187aa) g.19:16275655C>T,c.416G>A,p.G139E
CIB2(NM_006383,calcium and integrin binding family member 2,187aa) g.15:78398175C>T,c.448G>A,p.D150N
CIB1(NM_001277764,calcium and integrin binding 1 (calmyrin),231aa) g.15:90775599G>A,c.167C>T,p.P56L
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