| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201053538C>T | CA004054 | CACNA1S | c.3716G>A (p.Arg1239His) c.*2879G>A (n.*2879G>A) n.842G>A c.*1234G>A (n.*1234G>A) c.3656G>A (p.Arg1219His) c.3659G>A (p.Arg1220His) | ClinVar dbSNP |
| 1 | g.201053538C>G | CA344154739 | CACNA1S | c.3716G>C (p.Arg1239Pro) c.*2879G>C (n.*2879G>C) n.842G>C c.*1234G>C (n.*1234G>C) c.3656G>C (p.Arg1219Pro) c.3659G>C (p.Arg1220Pro) | dbSNP gnomAD v4 |
| 1 | g.201053538C= | CA1140496126 | CACNA1S | c.3716G= (p.Arg1239=) c.*2879G= (n.*2879G=) n.842G= c.*1234G= (n.*1234G=) c.3656G= (p.Arg1219=) c.3659G= (p.Arg1220=) | dbSNP |