| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551441C>A | CA063970 | SCN5A | c.4928G>T (p.Arg1643Leu) c.4931G>T (p.Arg1644Leu) c.4877G>T (p.Arg1626Leu) c.4769G>T (p.Arg1590Leu) c.4832G>T (p.Arg1611Leu) c.4802G>T (p.Arg1601Leu) c.4874G>T (p.Arg1625Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551441C>T | CA018760 | SCN5A | c.4928G>A (p.Arg1643His) c.4931G>A (p.Arg1644His) c.4877G>A (p.Arg1626His) c.4769G>A (p.Arg1590His) c.4832G>A (p.Arg1611His) c.4802G>A (p.Arg1601His) c.4874G>A (p.Arg1625His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551441C>G | CA352142945 | SCN5A | c.4928G>C (p.Arg1643Pro) c.4931G>C (p.Arg1644Pro) c.4877G>C (p.Arg1626Pro) c.4769G>C (p.Arg1590Pro) c.4832G>C (p.Arg1611Pro) c.4802G>C (p.Arg1601Pro) c.4874G>C (p.Arg1625Pro) | dbSNP |
| 3 | g.38551441C= | CA1358558048 | SCN5A | c.4928G= (p.Arg1643=) c.4931G= (p.Arg1644=) c.4877G= (p.Arg1626=) c.4769G= (p.Arg1590=) c.4832G= (p.Arg1611=) c.4802G= (p.Arg1601=) c.4874G= (p.Arg1625=) | dbSNP |