| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551188G>A | CA018968 | SCN5A | c.5181C>T (p.Cys1727=) c.5184C>T (p.Cys1728=) c.5130C>T (p.Cys1710=) c.5022C>T (p.Cys1674=) c.5085C>T (p.Cys1695=) c.5055C>T (p.Cys1685=) c.5127C>T (p.Cys1709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551188G>C | CA018961 | SCN5A | c.5181C>G (p.Cys1727Trp) c.5184C>G (p.Cys1728Trp) c.5130C>G (p.Cys1710Trp) c.5022C>G (p.Cys1674Trp) c.5085C>G (p.Cys1695Trp) c.5055C>G (p.Cys1685Trp) c.5127C>G (p.Cys1709Trp) | ClinVar dbSNP |
| 3 | g.38551188G>T | CA352142044 | SCN5A | c.5181C>A (p.Cys1727Ter) c.5184C>A (p.Cys1728Ter) c.5130C>A (p.Cys1710Ter) c.5022C>A (p.Cys1674Ter) c.5085C>A (p.Cys1695Ter) c.5055C>A (p.Cys1685Ter) c.5127C>A (p.Cys1709Ter) | dbSNP gnomAD v4 |
| 3 | g.38551188G= | CA1358557570 | SCN5A | c.5181C= (p.Cys1727=) c.5184C= (p.Cys1728=) c.5130C= (p.Cys1710=) c.5022C= (p.Cys1674=) c.5085C= (p.Cys1695=) c.5055C= (p.Cys1685=) c.5127C= (p.Cys1709=) | dbSNP |