Genename Variants
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181705509C>T,c.3361C>T,p.R1121C
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181702865G>A,c.3241G>A,p.V1081M
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181702794C>T,c.3170C>T,p.T1057M
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181702689C>T,c.3065C>T,p.T1022M
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181702616G>A,c.2992G>A,p.G998S
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181702034C>T,c.2812C>T,p.R938W
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181701998G>A,c.2776G>A,p.V926I
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181701978G>A,c.2756G>A,p.R919Q
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181701903C>T,c.2681C>T,p.P894L
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181701799T>A,c.2577T>A,p.D859E
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181701627C>T,c.2405C>T,p.A802V
CACNA1E(NM_001205293,calcium channel, voltage-dependent, R type, alpha 1E subunit,2313aa) g.1:181700330C>T,c.2260C>T,p.H754Y
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53845343_53845344insT,c.6456_6457insT,p.2152fs
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53842692_53842694del,c.5826_5828del,p.1942_1943del
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53839132G>A,c.5768G>A,p.R1923Q
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53837488G>A,c.5534G>A,p.R1845Q
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53804021C>T,c.3952C>T,p.P1318S
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53796092C>T,c.3914C>T,p.A1305V
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53787624A>G,c.3761A>G,p.N1254S
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53785830A>C,c.3631A>C,p.K1211Q
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53783437G>A,c.3517G>A,p.V1173I
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53783341A>G,c.3421A>G,p.I1141V
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53781414G>A,c.3313G>A,p.D1105N
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53766920T>G,c.2612T>G,p.L871W
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53766050T>C,c.2474T>C,p.I825T
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53760987G>A,c.2242G>A,p.V748I
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53756472A>G,c.1697A>G,p.N566S
CACNA1D(NM_000720,calcium channel, voltage-dependent, L type, alpha 1D subunit,2181aa) g.3:53752376G>A,c.1439G>A,p.S480N
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org