| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444727T>C | CA342516 | KCNQ2 | c.622A>G (p.Met208Val) n.360A>G n.16A>G c.103A>G (p.Met35Val) c.280A>G (p.Met94Val) n.748A>G n.464A>G c.43A>G (p.Met15Val) n.447A>G c.553A>G (p.Met185Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444727T= | CA2374796028 | KCNQ2 | c.622A= (p.Met208=) n.360A= n.16A= c.103A= (p.Met35=) c.280A= (p.Met94=) n.748A= n.464A= c.43A= (p.Met15=) n.447A= c.553A= (p.Met185=) | dbSNP |