Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.2607117G>ACA264828CACNA1Cc.3418G>A (p.Glu1140Lys)
c.3343G>A (p.Glu1115Lys)
c.3433G>A (p.Glu1145Lys)
c.3493G>A (p.Glu1165Lys)
c.3334G>A (p.Glu1112Lys)
c.3508G>A (p.Glu1170Lys)
c.3403G>A (p.Glu1135Lys)
c.*1950G>A (n.*1950G>A)
c.*2963G>A (n.*2963G>A)
c.2866G>A (p.Glu956Lys)
c.2926G>A (p.Glu976Lys)
c.2503G>A (p.Glu835Lys)
c.1948G>A (p.Glu650Lys)
c.3706G>A (p.Glu1236Lys)
c.3511G>A (p.Glu1171Lys)
c.3586G>A (p.Glu1196Lys)
c.3502G>A (p.Glu1168Lys)
ClinVar dbSNP
12g.2607117G>TCA383374993CACNA1Cc.3418G>T (p.Glu1140Ter)
c.3343G>T (p.Glu1115Ter)
c.3433G>T (p.Glu1145Ter)
c.3493G>T (p.Glu1165Ter)
c.3334G>T (p.Glu1112Ter)
c.3508G>T (p.Glu1170Ter)
c.3403G>T (p.Glu1135Ter)
c.*1950G>T (n.*1950G>T)
c.*2963G>T (n.*2963G>T)
c.2866G>T (p.Glu956Ter)
c.2926G>T (p.Glu976Ter)
c.2503G>T (p.Glu835Ter)
c.1948G>T (p.Glu650Ter)
c.3706G>T (p.Glu1236Ter)
c.3511G>T (p.Glu1171Ter)
c.3586G>T (p.Glu1196Ter)
c.3502G>T (p.Glu1168Ter)
dbSNP

Number of alleles fetched