基因名 突变
SYTL4(NM_080737,synaptotagmin-like 4,671aa) g.X:99941705T>C,c.1258A>G,p.I420V
SYTL4(NM_080737,synaptotagmin-like 4,671aa) g.X:99933535G>C,c.1720C>G,p.L574V
SYTL4(NM_080737,synaptotagmin-like 4,671aa) g.X:99931103C>T,c.1938G>A,p.M646I
SYTL4(NM_080737,synaptotagmin-like 4,671aa) g.X:99931059C>T,c.1982G>A,p.R661H
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159185617T>C,c.1814T>C,p.M605T
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159185563T>A,c.1760T>A,p.L587Q
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159183177G>A,c.1484G>A,p.R495Q
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159183113G>A,c.1420G>A,p.D474N
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159181723C>T,c.1360C>T,p.R454W
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159178390C>T,c.1285C>T,p.R429C
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159178345C>T,c.1240C>T,p.P414S
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159172998A>G,c.1073A>G,p.Q358R
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159166691G>A,c.1034+1G>A,p.345Donor
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159166569A>G,c.913A>G,p.N305D
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159134911del,c.595+1del,p.199Donordel
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159103997C>T,c.370C>T,p.R124X
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159103997C>G,c.370C>G,p.R124G
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159086573G>A,c.257G>A,p.R86H
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159086572C>T,c.256C>T,p.R86C
SYTL3(NM_001242394,synaptotagmin-like 3,610aa) g.6:159084320T>A,c.20T>A,p.L7Q
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85437499T>C,c.1A>G,p.M1V
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85437405T>C,c.95A>G,p.D32G
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85437328C>T,c.172G>A,p.D58N
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85437226T>C,c.274A>G,p.I92V
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85436868G>C,c.632C>G,p.A211G
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85436830T>C,c.670A>G,p.I224V
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85436535C>A,c.965G>T,p.G322V
SYTL2(NM_206927,synaptotagmin-like 2,1272aa) g.11:85436500T>C,c.1000A>G,p.M334V
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