| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38566465C>T | CA017513 | SCN5A | c.3781G>A (p.Gly1261Ser) c.3784G>A (p.Gly1262Ser) c.3622G>A (p.Gly1208Ser) c.3655G>A (p.Gly1219Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38566465C>A | CA352149068 | SCN5A | c.3781G>T (p.Gly1261Cys) c.3784G>T (p.Gly1262Cys) c.3622G>T (p.Gly1208Cys) c.3655G>T (p.Gly1219Cys) | ClinVar dbSNP |
| 3 | g.38566465C= | CA1358569561 | SCN5A | c.3781G= (p.Gly1261=) c.3784G= (p.Gly1262=) c.3622G= (p.Gly1208=) c.3655G= (p.Gly1219=) | dbSNP |
| 3 | g.38566465C>G | CA352149069 | SCN5A | c.3781G>C (p.Gly1261Arg) c.3784G>C (p.Gly1262Arg) c.3622G>C (p.Gly1208Arg) c.3655G>C (p.Gly1219Arg) | dbSNP |