| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38579416G>T | CA017028 | SCN5A | c.3305C>A (p.Ser1102Tyr) c.3308C>A (p.Ser1103Tyr) c.3228+1515C>A (n.3228+1515C>A) c.3179C>A (p.Ser1060Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579416G>A | CA061598 | SCN5A | c.3305C>T (p.Ser1102Phe) c.3308C>T (p.Ser1103Phe) c.3228+1515C>T (n.3228+1515C>T) c.3179C>T (p.Ser1060Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579416G= | CA1358574494 | SCN5A | c.3305C= (p.Ser1102=) c.3308C= (p.Ser1103=) c.3228+1515C= (n.3228+1515C=) c.3179C= (p.Ser1060=) | dbSNP |