Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566527T>G | CA017466 | SCN5A | c.3719A>C (p.Tyr1240Ser) c.3722A>C (p.Tyr1241Ser) c.3560A>C (p.Tyr1187Ser) c.3593A>C (p.Tyr1198Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T>C | CA352149290 | SCN5A | c.3719A>G (p.Tyr1240Cys) c.3722A>G (p.Tyr1241Cys) c.3560A>G (p.Tyr1187Cys) c.3593A>G (p.Tyr1198Cys) | ClinVar dbSNP gnomAD v4 |