| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38579477del | CA16617948 | SCN5A | c.3244del (p.Ser1082ProfsTer?) c.3247del (p.Ser1083ProfsTer?) c.3228+1454del (n.3228+1454del) c.3118del (p.Ser1040ProfsTer?) | ClinVar dbSNP |
| 3 | g.38579477A= | CA1358574572 | SCN5A | c.3244T= (p.Ser1082=) c.3247T= (p.Ser1083=) c.3228+1454T= (n.3228+1454T=) c.3118T= (p.Ser1040=) | dbSNP dbSNP |