基因名 突变
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45650900A>G,c.4378A>G,p.I1460V
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45646146A>G,c.4189A>G,p.M1397V
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45646083G>A,c.4126G>A,p.A1376T
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45645877A>G,c.3920A>G,p.Y1307C
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45645820A>G,c.3863A>G,p.N1288S
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45645715A>G,c.3758A>G,p.N1253S
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45645253G>A,c.3296G>A,p.R1099H
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45645150T>G,c.3193T>G,p.C1065G
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644997G>T,c.3040G>T,p.G1014C
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644953C>T,c.2996C>T,p.P999L
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644706A>G,c.2749A>G,p.I917V
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644691A>G,c.2734A>G,p.I912V
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644589G>T,c.2632G>T,p.V878L
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644346C>G,c.2389C>G,p.P797A
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644296A>C,c.2339A>C,p.E780A
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45644287A>G,c.2330A>G,p.Y777C
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45642364G>A,c.2267G>A,p.R756H
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45636360A>G,c.1996A>G,p.R666G
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45636328A>G,c.1964A>G,p.N655S
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45623987G>A,c.1271G>A,p.R424H
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45606387A>G,c.624A>G,p.I208M
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45606364G>A,c.601G>A,p.G201R
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45606310A>C,c.547A>C,p.S183R
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45606290C>T,c.527C>T,p.T176I
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45606287C>T,c.524C>T,p.S175F
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45605463A>G,c.229A>G,p.T77A
FANCM(NM_020937,Fanconi anemia, complementation group M,2048aa) g.14:45605460T>C,c.226T>C,p.C76R
FANCL(NM_001114636,Fanconi anemia, complementation group L,380aa) g.2:58459236G>C,c.108C>G,p.F36L
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