| 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 |