| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38557248C>A | CA018074 | SCN5A | c.4279G>T (p.Ala1427Ser) c.4282G>T (p.Ala1428Ser) c.4246-670G>T (n.4246-670G>T) c.4120G>T (p.Ala1374Ser) c.4153G>T (p.Ala1385Ser) c.4243-670G>T (n.4243-670G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557248C= | CA1358564159 | SCN5A | c.4279G= (p.Ala1427=) c.4282G= (p.Ala1428=) c.4246-670G= (n.4246-670G=) c.4120G= (p.Ala1374=) c.4153G= (p.Ala1385=) c.4243-670G= (n.4243-670G=) | dbSNP |