| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560404C>G | CA017704 | SCN5A | c.3985G>C (p.Ala1329Pro) c.3988G>C (p.Ala1330Pro) c.3826G>C (p.Ala1276Pro) c.3859G>C (p.Ala1287Pro) | ClinVar dbSNP |
| 3 | g.38560404C>T | CA017699 | SCN5A | c.3985G>A (p.Ala1329Thr) c.3988G>A (p.Ala1330Thr) c.3826G>A (p.Ala1276Thr) c.3859G>A (p.Ala1287Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560404C= | CA1358565770 | SCN5A | c.3985G= (p.Ala1329=) c.3988G= (p.Ala1330=) c.3826G= (p.Ala1276=) c.3859G= (p.Ala1287=) | dbSNP |