| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38579384C>A | CA352138697 | SCN5A | c.3337G>T (p.Asp1113Tyr) c.3340G>T (p.Asp1114Tyr) c.3228+1547G>T (n.3228+1547G>T) c.3211G>T (p.Asp1071Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38579384C>T | CA017057 | SCN5A | c.3337G>A (p.Asp1113Asn) c.3340G>A (p.Asp1114Asn) c.3228+1547G>A (n.3228+1547G>A) c.3211G>A (p.Asp1071Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |