Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38551357G>T | CA018848 | SCN5A | c.5012C>A (p.Ser1671Tyr) c.5015C>A (p.Ser1672Tyr) c.4961C>A (p.Ser1654Tyr) c.4853C>A (p.Ser1618Tyr) c.4916C>A (p.Ser1639Tyr) c.4886C>A (p.Ser1629Tyr) c.4958C>A (p.Ser1653Tyr) | ClinVar dbSNP |
3 | g.38551357G>A | CA352142746 | SCN5A | c.5012C>T (p.Ser1671Phe) c.5015C>T (p.Ser1672Phe) c.4961C>T (p.Ser1654Phe) c.4853C>T (p.Ser1618Phe) c.4916C>T (p.Ser1639Phe) c.4886C>T (p.Ser1629Phe) c.4958C>T (p.Ser1653Phe) | ClinVar dbSNP |