| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38557275T>C | CA018037 | SCN5A | c.4252A>G (p.Lys1418Glu) c.4255A>G (p.Lys1419Glu) c.4246-697A>G (n.4246-697A>G) c.4093A>G (p.Lys1365Glu) c.4126A>G (p.Lys1376Glu) c.4243-697A>G (n.4243-697A>G) | ClinVar dbSNP |
| 3 | g.38557275T>A | CA352145636 | SCN5A | c.4252A>T (p.Lys1418Ter) c.4255A>T (p.Lys1419Ter) c.4246-697A>T (n.4246-697A>T) c.4093A>T (p.Lys1365Ter) c.4126A>T (p.Lys1376Ter) c.4243-697A>T (n.4243-697A>T) | dbSNP |