| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40818661T>A | CA347371 | KCNQ4 | c.689T>A (p.Val230Glu) c.375T>A n.695T>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.40818661T>C | CA339894814 | KCNQ4 | c.689T>C (p.Val230Ala) c.375T>C n.695T>C | dbSNP gnomAD v4 |
| 1 | g.40818661T= | CA1164544971 | KCNQ4 | c.689T= (p.Val230=) c.375T= n.695T= | dbSNP |