基因名 突变
FANCL(NM_001114636,Fanconi anemia, complementation group L,380aa) g.2:58459232G>A,c.112C>T,p.L38F
FANCL(NM_001114636,Fanconi anemia, complementation group L,380aa) g.2:58392928C>T,c.637G>A,p.D213N
FANCL(NM_001114636,Fanconi anemia, complementation group L,380aa) g.2:58392880T>C,c.685A>G,p.T229A
FANCL(NM_001114636,Fanconi anemia, complementation group L,380aa) g.2:58390589A>C,c.770T>G,p.F257C
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89857843G>A,c.3721G>A,p.A1241T
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89856189G>A,c.3706G>A,p.V1236I
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89856160C>T,c.3677C>T,p.T1226M
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89848621C>T,c.3236C>T,p.T1079M
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89847143C>T,c.3055C>T,p.R1019W
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89844627C>T,c.2960C>T,p.T987M
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89843606G>A,c.2879G>A,p.R960Q
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89843162A>G,c.2768A>G,p.Y923C
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89838318A>T,c.2629A>T,p.I877L
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89838293A>C,c.2604A>C,p.E868D
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89836228G>C,c.2225G>C,p.C742S
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89835982C>A,c.2056C>A,p.Q686K
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89835937A>G,c.2011A>G,p.I671V
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89834846A>C,c.1893A>C,p.L631F
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89828441C>T,c.1813C>T,p.L605F
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89825056A>G,c.1573A>G,p.M525V
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89824418G>A,c.1399G>A,p.V467I
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89817534A>G,c.1111A>G,p.S371G
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89811698T>C,c.824T>C,p.I275T
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89805073G>A,c.467G>A,p.C156Y
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89804072G>A,c.286G>A,p.E96K
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89804070T>A,c.284T>A,p.L95Q
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89804043C>T,c.257C>T,p.A86V
FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) g.15:89803982C>T,c.196C>T,p.R66C
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