| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38566558C>T | CA017410 | SCN5A | c.3688G>A (p.Glu1230Lys) c.3691G>A (p.Glu1231Lys) c.3529G>A (p.Glu1177Lys) c.3562G>A (p.Glu1188Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38566558C>G | CA352149419 | SCN5A | c.3688G>C (p.Glu1230Gln) c.3691G>C (p.Glu1231Gln) c.3529G>C (p.Glu1177Gln) c.3562G>C (p.Glu1188Gln) | ClinVar dbSNP |
| 3 | g.38566558C>A | CA352149417 | SCN5A | c.3688G>T (p.Glu1230Ter) c.3691G>T (p.Glu1231Ter) c.3529G>T (p.Glu1177Ter) c.3562G>T (p.Glu1188Ter) | ClinVar dbSNP gnomAD v4 |