基因名 突变
FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) g.6:35423528C>T,c.253C>T,p.P85S
FANCD2OS(NM_173472,FANCD2 opposite strand,177aa) g.3:10146274G>T,c.185C>A,p.P62Q
FANCD2OS(NM_173472,FANCD2 opposite strand,177aa) g.3:10146208T>A,c.251A>T,p.N84I
FANCD2OS(NM_173472,FANCD2 opposite strand,177aa) g.3:10146098A>G,c.361T>C,p.S121P
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10138069T>G,c.4098T>G,p.L1366L
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10128928C>T,c.3446C>T,p.A1149V
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10128825G>A,c.3343G>A,p.V1115I
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10123051G>A,c.3127G>A,p.G1043S
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10116221C>T,c.2723C>T,p.T908I
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10115033G>T,c.2702G>T,p.G901V
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10107614G>A,c.2336G>A,p.R779H
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10106532C>T,c.2141C>T,p.P714L
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10105512G>A,c.1864G>A,p.E622K
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10103845C>T,c.1777C>T,p.P593S
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10094159A>G,c.1634A>G,p.N545S
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10088343A>G,c.1214A>G,p.N405S
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10084828G>A,c.983G>A,p.R328Q
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10081411A>G,c.577A>G,p.T193A
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10076460C>T,c.355C>T,p.R119C
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10076401G>A,c.296G>A,p.G99D
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10074646G>C,c.195G>C,p.Q65H
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10074633C>T,c.182C>T,p.T61M
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10074529A>C,c.78A>C,p.Q26H
FANCD2(NM_033084,Fanconi anemia, complementation group D2,1471aa) g.3:10070369T>C,c.28T>C,p.S10P
FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) g.9:98011545C>T,c.29G>A,p.C10Y
FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) g.9:98011497G>A,c.77C>T,p.S26F
FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) g.9:98009786C>T,c.178G>A,p.V60I
FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) g.9:98009725A>G,c.239T>C,p.I80T
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