| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4912627C>G | CA383456363 | KCNA1 | c.1249C>G (p.Arg417Gly) n.105+2155C>G c.1087C>G (p.Arg363Gly) c.76+361C>G n.96+2155C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.4912627C>T | CA341288 | KCNA1 | c.1249C>T (p.Arg417Ter) n.105+2155C>T c.1087C>T (p.Arg363Ter) c.76+361C>T n.96+2155C>T | ClinVar dbSNP |
| 12 | g.4912627C= | CA2013367932 | KCNA1 | c.1249C= (p.Arg417=) n.105+2155C= c.1087C= (p.Arg363=) c.76+361C= n.96+2155C= | dbSNP |
| 12 | g.4912627C>A | CA478094555 | KCNA1 | c.1249C>A (p.Arg417=) n.105+2155C>A c.1087C>A (p.Arg363=) c.76+361C>A n.96+2155C>A | ClinVar dbSNP gnomAD v4 |