基因名 突变
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208994509T>G,c.8A>C,p.K3T
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208994365C>T,c.52G>A,p.E18K
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208994274C>T,c.143G>A,p.R48H
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208994253T>C,c.164A>G,p.Q55R
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208993172C>T,c.280G>A,p.E94K
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208993135C>T,c.317G>A,p.S106N
CRYGC(NM_020989,crystallin, gamma C,174aa) g.2:208992950G>A,c.502C>T,p.R168W
CRYGB(NM_005210,crystallin, gamma B,175aa) g.2:209010571C>T,c.179G>A,p.R60H
CRYGB(NM_005210,crystallin, gamma B,175aa) g.2:209007559T>G,c.331A>C,p.I111L
CRYGB(NM_005210,crystallin, gamma B,175aa) g.2:209007544G>A,c.346C>T,p.R116C
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209028127T>A,c.53A>T,p.N18I
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209028110G>A,c.70C>T,p.P24S
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209028001C>T,c.179G>A,p.R60Q
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209027987C>T,c.193G>A,p.D65N
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209027981G>C,c.199C>G,p.Q67E
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209027941C>T,c.239G>A,p.R80H
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209025758G>A,c.295C>T,p.R99X
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209025594C>A,c.459G>T,p.R153S
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209025583C>A,c.470G>T,p.W157L
CRYGA(NM_014617,crystallin, gamma A,174aa) g.2:209025531G>C,c.522C>G,p.Y174X
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97662146T>G,c.8901T>G,p.I2967M
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97662072G>C,c.8827G>C,p.G2943R
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97660106A>C,c.8620A>C,p.N2874H
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97655739G>A,c.8492G>A,p.R2831H
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97652658G>T,c.8362G>T,p.V2788L
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97634465A>G,c.8126A>G,p.Y2709C
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97618079T>C,c.7943T>C,p.I2648T
CRYBG3(NM_153605,beta-gamma crystallin domain containing 3,2970aa) g.3:97611805C>G,c.7542C>G,p.H2514Q
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