| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4912600G>T | CA341651 | KCNA1 | c.1222G>T (p.Val408Leu) n.105+2128G>T c.1060G>T (p.Val354Leu) c.76+334G>T n.96+2128G>T | dbSNP |
| 12 | g.4912600G>A | CA10604040 | KCNA1 | c.1222G>A (p.Val408Met) n.105+2128G>A c.1060G>A (p.Val354Met) c.76+334G>A n.96+2128G>A | ClinVar dbSNP |