| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550989A>G | CA019191 | SCN5A | c.5380T>C (p.Tyr1794His) c.5383T>C (p.Tyr1795His) c.5329T>C (p.Tyr1777His) c.5221T>C (p.Tyr1741His) c.5284T>C (p.Tyr1762His) c.5254T>C (p.Tyr1752His) c.5326T>C (p.Tyr1776His) | ClinVar dbSNP |
| 3 | g.38550989A= | CA1358557082 | SCN5A | c.5380T= (p.Tyr1794=) c.5383T= (p.Tyr1795=) c.5329T= (p.Tyr1777=) c.5221T= (p.Tyr1741=) c.5284T= (p.Tyr1762=) c.5254T= (p.Tyr1752=) c.5326T= (p.Tyr1776=) | dbSNP |
| 3 | g.38550989A>T | CA352141236 | SCN5A | c.5380T>A (p.Tyr1794Asn) c.5383T>A (p.Tyr1795Asn) c.5329T>A (p.Tyr1777Asn) c.5221T>A (p.Tyr1741Asn) c.5284T>A (p.Tyr1762Asn) c.5254T>A (p.Tyr1752Asn) c.5326T>A (p.Tyr1776Asn) | dbSNP |