Genename |
Variants |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201058391A>G,c.895T>C,p.Y299H |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201054602G>A,c.1112C>T,p.T371M |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201052310A>T,c.1373T>A,p.L458H |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201052298C>T,c.1385G>A,p.R462H |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201047161G>A,c.1465C>T,p.R489C |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201047133C>T,c.1493G>A,p.R498H |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201047075A>G,c.1551T>C,p.G517G |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201047062G>A,c.1564C>T,p.L522L |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201047044G>A,c.1582C>T,p.R528C |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201046205C>T,c.1670G>A,p.R557H |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201046130C>G,c.1745G>C,p.G582A |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201046058C>T,c.1817G>A,p.S606N |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201044667A>G,c.1904T>C,p.M635T |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201044635C>T,c.1936G>A,p.V646I |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201042735G>A,c.2099C>T,p.T700M |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201038650C>T,c.2440G>A,p.A814T |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201038610A>G,c.2480T>C,p.M827T |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201035025C>T,c.2794G>A,p.V932M |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201031612T>C,c.2884A>G,p.K962E |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201031165T>C,c.2960A>G,p.H987R |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201031099G>A,c.3026C>T,p.T1009M |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201031082C>T,c.3043G>A,p.G1015R |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201029913C>T,c.3287G>A,p.R1096H |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201023671C>T,c.3628G>A,p.G1210R |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201023635C>T,c.3664G>A,p.V1222I |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201021733C>T,c.3905G>A,p.R1302Q |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201019588G>C,c.4170C>G,p.D1390E |
CACNA1S(NM_000069,calcium channel, voltage-dependent, L type, alpha 1S subunit,1873aa) |
g.1:201017737G>A,c.4414C>T,p.R1472C |