| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38579474C>G | CA016964 | SCN5A | c.3247G>C (p.Gly1083Arg) c.3250G>C (p.Gly1084Arg) c.3228+1457G>C (n.3228+1457G>C) c.3121G>C (p.Gly1041Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579474C>T | CA016951 | SCN5A | c.3247G>A (p.Gly1083Ser) c.3250G>A (p.Gly1084Ser) c.3228+1457G>A (n.3228+1457G>A) c.3121G>A (p.Gly1041Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |