| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38555698C>A | CA018351 | SCN5A | c.4497G>T (p.Lys1499Asn) c.4500G>T (p.Lys1500Asn) c.4446G>T (p.Lys1482Asn) c.4338G>T (p.Lys1446Asn) c.4371G>T (p.Lys1457Asn) c.4443G>T (p.Lys1481Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38555698C>T | CA433135712 | SCN5A | c.4497G>A (p.Lys1499=) c.4500G>A (p.Lys1500=) c.4446G>A (p.Lys1482=) c.4338G>A (p.Lys1446=) c.4371G>A (p.Lys1457=) c.4443G>A (p.Lys1481=) | ClinVar dbSNP gnomAD v4 |