| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40818673A>G | CA16617142 | KCNQ4 | c.701A>G (p.His234Arg) c.387A>G n.707A>G | ClinVar dbSNP |
| 1 | g.40818673A>T | CA339894852 | KCNQ4 | c.701A>T (p.His234Leu) c.387A>T n.707A>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.40818673A= | CA1164544976 | KCNQ4 | c.701A= (p.His234=) c.387A= n.707A= | dbSNP |