| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444708C>G | CA16043158 | KCNQ2 | c.641G>C (p.Arg214Pro) n.379G>C n.35G>C c.122G>C (p.Arg41Pro) c.299G>C (p.Arg100Pro) n.767G>C n.483G>C c.6G>C c.62G>C (p.Arg21Pro) n.466G>C c.572G>C (p.Arg191Pro) | ClinVar dbSNP |
| 20 | g.63444708C>T | CA409654734 | KCNQ2 | c.641G>A (p.Arg214Gln) n.379G>A n.35G>A c.122G>A (p.Arg41Gln) c.299G>A (p.Arg100Gln) n.767G>A n.483G>A c.6G>A c.62G>A (p.Arg21Gln) n.466G>A c.572G>A (p.Arg191Gln) | ClinVar dbSNP gnomAD v4 |