| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551243G>A | CA018910 | SCN5A | c.5126C>T (p.Ser1709Leu) c.5129C>T (p.Ser1710Leu) c.5075C>T (p.Ser1692Leu) c.4967C>T (p.Ser1656Leu) c.5030C>T (p.Ser1677Leu) c.5000C>T (p.Ser1667Leu) c.5072C>T (p.Ser1691Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551243G>C | CA352142256 | SCN5A | c.5126C>G (p.Ser1709Trp) c.5129C>G (p.Ser1710Trp) c.5075C>G (p.Ser1692Trp) c.4967C>G (p.Ser1656Trp) c.5030C>G (p.Ser1677Trp) c.5000C>G (p.Ser1667Trp) c.5072C>G (p.Ser1691Trp) | dbSNP |
| 3 | g.38551243G= | CA1358557685 | SCN5A | c.5126C= (p.Ser1709=) c.5129C= (p.Ser1710=) c.5075C= (p.Ser1692=) c.4967C= (p.Ser1656=) c.5030C= (p.Ser1677=) c.5000C= (p.Ser1667=) c.5072C= (p.Ser1691=) | dbSNP |