| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.110603902C>T | CA10602728 | KCNA2 | c.881G>A (p.Arg294His) n.361+1489G>A c.119G>A (p.Arg40His) n.649G>A c.299G>A (p.Arg100His) n.989G>A n.459+1489G>A c.515G>A (p.Arg172His) | ClinVar dbSNP |
| 1 | g.110603902C>A | CA341602929 | KCNA2 | c.881G>T (p.Arg294Leu) n.361+1489G>T c.119G>T (p.Arg40Leu) n.649G>T c.299G>T (p.Arg100Leu) n.989G>T n.459+1489G>T c.515G>T (p.Arg172Leu) | dbSNP COSMIC |