| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550988T>C | CA019196 | SCN5A | c.5381A>G (p.Tyr1794Cys) c.5384A>G (p.Tyr1795Cys) c.5330A>G (p.Tyr1777Cys) c.5222A>G (p.Tyr1741Cys) c.5285A>G (p.Tyr1762Cys) c.5255A>G (p.Tyr1752Cys) c.5327A>G (p.Tyr1776Cys) | ClinVar dbSNP |
| 3 | g.38550988T= | CA1358557075 | SCN5A | c.5381A= (p.Tyr1794=) c.5384A= (p.Tyr1795=) c.5330A= (p.Tyr1777=) c.5222A= (p.Tyr1741=) c.5285A= (p.Tyr1762=) c.5255A= (p.Tyr1752=) c.5327A= (p.Tyr1776=) | dbSNP |
| 3 | g.38550988T>A | CA352141234 | SCN5A | c.5381A>T (p.Tyr1794Phe) c.5384A>T (p.Tyr1795Phe) c.5330A>T (p.Tyr1777Phe) c.5222A>T (p.Tyr1741Phe) c.5285A>T (p.Tyr1762Phe) c.5255A>T (p.Tyr1752Phe) c.5327A>T (p.Tyr1776Phe) | dbSNP |