| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551133C>T | CA019040 | SCN5A | c.5236G>A (p.Val1746Met) c.5239G>A (p.Val1747Met) c.5185G>A (p.Val1729Met) c.5077G>A (p.Val1693Met) c.5140G>A (p.Val1714Met) c.5110G>A (p.Val1704Met) c.5182G>A (p.Val1728Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551133C>A | CA352141826 | SCN5A | c.5236G>T (p.Val1746Leu) c.5239G>T (p.Val1747Leu) c.5185G>T (p.Val1729Leu) c.5077G>T (p.Val1693Leu) c.5140G>T (p.Val1714Leu) c.5110G>T (p.Val1704Leu) c.5182G>T (p.Val1728Leu) | ClinVar dbSNP |