| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551505G>A | CA018662 | SCN5A | c.4864C>T (p.Arg1622Ter) c.4867C>T (p.Arg1623Ter) c.4813C>T (p.Arg1605Ter) c.4705C>T (p.Arg1569Ter) c.4768C>T (p.Arg1590Ter) c.4738C>T (p.Arg1580Ter) c.4810C>T (p.Arg1604Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551505G>T | CA063889 | SCN5A | c.4864C>A (p.Arg1622=) c.4867C>A (p.Arg1623=) c.4813C>A (p.Arg1605=) c.4705C>A (p.Arg1569=) c.4768C>A (p.Arg1590=) c.4738C>A (p.Arg1580=) c.4810C>A (p.Arg1604=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |