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 |