| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554532G>T | CA352144127 | SCN5A | c.4557C>A (p.Phe1519Leu) c.4560C>A (p.Phe1520Leu) c.4506C>A (p.Phe1502Leu) c.4398C>A (p.Phe1466Leu) n.18C>A c.4431C>A (p.Phe1477Leu) c.4503C>A (p.Phe1501Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554532G>C | CA018419 | SCN5A | c.4557C>G (p.Phe1519Leu) c.4560C>G (p.Phe1520Leu) c.4506C>G (p.Phe1502Leu) c.4398C>G (p.Phe1466Leu) n.18C>G c.4431C>G (p.Phe1477Leu) c.4503C>G (p.Phe1501Leu) | ClinVar dbSNP |
| 3 | g.38554532G>A | CA433135125 | SCN5A | c.4557C>T (p.Phe1519=) c.4560C>T (p.Phe1520=) c.4506C>T (p.Phe1502=) c.4398C>T (p.Phe1466=) n.18C>T c.4431C>T (p.Phe1477=) c.4503C>T (p.Phe1501=) | dbSNP |