| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38566426C>T | CA017530 | SCN5A | c.3820G>A (p.Asp1274Asn) c.3823G>A (p.Asp1275Asn) c.3661G>A (p.Asp1221Asn) c.3694G>A (p.Asp1232Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38566426C>A | CA017536 | SCN5A | c.3820G>T (p.Asp1274Tyr) c.3823G>T (p.Asp1275Tyr) c.3661G>T (p.Asp1221Tyr) c.3694G>T (p.Asp1232Tyr) | ClinVar dbSNP |
| 3 | g.38566426C= | CA1358569462 | SCN5A | c.3820G= (p.Asp1274=) c.3823G= (p.Asp1275=) c.3661G= (p.Asp1221=) c.3694G= (p.Asp1232=) | dbSNP |
| 3 | g.38566426C>G | CA352148906 | SCN5A | c.3820G>C (p.Asp1274His) c.3823G>C (p.Asp1275His) c.3661G>C (p.Asp1221His) c.3694G>C (p.Asp1232His) | dbSNP |