| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560320C>T | CA352147167 | SCN5A | c.4069G>A (p.Gly1357Arg) c.4072G>A (p.Gly1358Arg) c.3910G>A (p.Gly1304Arg) c.3943G>A (p.Gly1315Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560320C>A | CA017852 | SCN5A | c.4069G>T (p.Gly1357Trp) c.4072G>T (p.Gly1358Trp) c.3910G>T (p.Gly1304Trp) c.3943G>T (p.Gly1315Trp) | ClinVar dbSNP |