Genename |
Variants |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140777306C>G,c.501C>G,p.N167K |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140777299G>T,c.494G>T,p.G165V |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140777194A>T,c.391-2A>T,p.131Acceptor |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140773613T>A,c.390+2T>A,p.130Donor |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140773504A>C,c.285-2A>C,p.95Acceptor |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140772671T>C,c.284+2T>C,p.95Donor |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140772670A>T,c.284+1A>T,p.95Donor |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140772613C>G,c.228C>G,p.F76L |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140772477G>T,c.92G>T,p.G31V |
CACNA1B(NM_000718,calcium channel, voltage-dependent, N type, alpha 1B subunit,2339aa) |
g.9:140772434G>A,c.49G>A,p.G17S |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65157225C>G,c.3653C>G,p.T1218S |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65157198A>G,c.3626A>G,p.H1209R |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65157057A>G,c.3485A>G,p.N1162S |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65139130T>C,c.2557T>C,p.F853L |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65130296A>G,c.2057A>G,p.N686S |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65113681G>A,c.1201G>A,p.V401I |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65113568T>C,c.1088T>C,p.M363T |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65107563A>G,c.914A>G,p.E305G |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65107557C>T,c.908C>T,p.S303L |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65099758G>A,c.668G>A,p.R223Q |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65095158G>C,c.485G>C,p.R162P |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65047869C>T,c.139C>T,p.R47C |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65016302C>G,c.71C>G,p.T24S |
CACHD1(NM_020925,cache domain containing 1,1223aa) |
g.1:65016278G>A,c.47G>A,p.R16Q |
CACFD1(NM_001242369,calcium channel flower domain containing 1,233aa) |
g.9:136333487G>A,c.454G>A,p.A152T |
CACFD1(NM_001242369,calcium channel flower domain containing 1,233aa) |
g.9:136330532C>T,c.283C>T,p.R95W |
CACFD1(NM_001242369,calcium channel flower domain containing 1,233aa) |
g.9:136328657T>G,c.174T>G,p.I58M |
CABYR(NM_012189,calcium binding tyrosine-(Y)-phosphorylation regulated,493aa) |
g.18:21736933T>G,c.1468T>G,p.S490A |