Genename |
Variants |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15569100G>A,c.3283G>A,p.G1095S |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15562176G>A,c.2945G>A,p.R982H |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15560840T>C,c.2882T>C,p.I961T |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15556832C>T,c.2624C>T,p.S875L |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15556727T>C,c.2519T>C,p.I840T |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15554883T>C,c.2441T>C,p.I814T |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15552591G>A,c.2326G>A,p.G776R |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15552462G>A,c.2197G>A,p.G733R |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15542617C>T,c.2161C>T,p.P721S |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15539735G>C,c.1978G>C,p.V660L |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15539703C>G,c.1946C>G,p.T649R |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15539594G>A,c.1837G>A,p.E613K |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15539591C>A,c.1834C>A,p.P612T |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15538626C>T,c.1691C>T,p.T564M |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15534868A>G,c.1519A>G,p.K507E |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15534833G>A,c.1484G>A,p.R495H |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15529190G>A,c.1270G>A,p.E424K |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15529082G>A,c.1162G>A,p.V388I |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15518357A>C,c.1127A>C,p.E376A |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15517532T>C,c.922T>C,p.F308L |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15513005_15513007del,c.676_678del,p.226del |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15511824G>T,c.501G>T,p.K167N |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15504502C>T,c.394C>T,p.R132X |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15504136C>T,c.332C>T,p.A111V |
CC2D2A(NM_001080522,coiled-coil and C2 domain containing 2A,1620aa) |
g.4:15482360C>T,c.156C>T,p.S52S |
CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) |
g.1:52828384A>G,c.104T>C,p.M35T |
CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) |
g.1:52828383C>T,c.105G>A,p.M35I |
CC2D1B(NM_032449,coiled-coil and C2 domain containing 1B,858aa) |
g.1:52827213_52827215del,c.288_290del,p.96_97del |