基因名 突变
COPB1(NM_016451,coatomer protein complex, subunit beta 1,953aa) g.11:14496142G>A,c.1636C>T,p.L546F
COPA(NM_001098398,coatomer protein complex, subunit alpha,1233aa) g.1:160302298T>C,c.436A>G,p.T146A
COPA(NM_001098398,coatomer protein complex, subunit alpha,1233aa) g.1:160302253C>T,c.481G>A,p.V161I
COPA(NM_001098398,coatomer protein complex, subunit alpha,1233aa) g.1:160262957C>T,c.2849G>A,p.R950Q
COPA(NM_001098398,coatomer protein complex, subunit alpha,1233aa) g.1:160262325T>A,c.2936A>T,p.Y979F
COPA(NM_001098398,coatomer protein complex, subunit alpha,1233aa) g.1:160261683C>A,c.3211G>T,p.V1071L
COPA(NM_001098398,coatomer protein complex, subunit alpha,1233aa) g.1:160261168C>T,c.3404G>A,p.R1135Q
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19951816C>T,c.609C>T,p.L203L
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19951809C>T,c.602C>T,p.T201M
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19951271G>A,c.472G>A,p.V158M
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19951207C>G,c.408C>G,p.L136L
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19951172C>T,c.373C>T,p.R125C
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19950329G>A,c.280G>A,p.D94N
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19950299G>A,c.250G>A,p.E84K
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19950263G>T,c.214G>T,p.A72S
COMT(NM_000754,catechol-O-methyltransferase,271aa) g.22:19950235C>T,c.186C>T,p.H62H
COMTD1(NM_144589,catechol-O-methyltransferase domain containing 1,262aa) g.10:76995442T>C,c.154A>G,p.S52G
COMTD1(NM_144589,catechol-O-methyltransferase domain containing 1,262aa) g.10:76995102G>T,c.251C>A,p.S84Y
COMTD1(NM_144589,catechol-O-methyltransferase domain containing 1,262aa) g.10:76994918G>A,c.347C>T,p.S116F
COMTD1(NM_144589,catechol-O-methyltransferase domain containing 1,262aa) g.10:76993923G>A,c.697C>T,p.R233X
COMP(NM_000095,cartilage oligomeric matrix protein,757aa) g.19:18902068T>G,c.11A>C,p.D4A
COMP(NM_000095,cartilage oligomeric matrix protein,757aa) g.19:18899986C>T,c.511G>A,p.A171T
COMP(NM_000095,cartilage oligomeric matrix protein,757aa) g.19:18899045G>T,c.951C>A,p.D317E
COMP(NM_000095,cartilage oligomeric matrix protein,757aa) g.19:18897440T>C,c.1156A>G,p.N386D
COMP(NM_000095,cartilage oligomeric matrix protein,757aa) g.19:18893732T>C,c.2267A>G,p.Q756R
COMMD9(NM_014186,COMM domain containing 9,198aa) g.11:36300124G>A,c.220C>T,p.R74C
COMMD9(NM_014186,COMM domain containing 9,198aa) g.11:36297779G>A,c.364C>T,p.R122C
COMMD9(NM_014186,COMM domain containing 9,198aa) g.11:36297719T>C,c.424A>G,p.M142V
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