| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201053539G>A | CA344154758 | CACNA1S | c.3715C>T (p.Arg1239Cys) c.*2878C>T (n.*2878C>T) n.841C>T c.*1233C>T (n.*1233C>T) c.3655C>T (p.Arg1219Cys) c.3658C>T (p.Arg1220Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201053539G>C | CA004048 | CACNA1S | c.3715C>G (p.Arg1239Gly) c.*2878C>G (n.*2878C>G) n.841C>G c.*1233C>G (n.*1233C>G) c.3655C>G (p.Arg1219Gly) c.3658C>G (p.Arg1220Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.201053539G= | CA1140496127 | CACNA1S | c.3715C= (p.Arg1239=) c.*2878C= (n.*2878C=) n.841C= c.*1233C= (n.*1233C=) c.3655C= (p.Arg1219=) c.3658C= (p.Arg1220=) | dbSNP |