Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38606071G>C | CA014540 | SCN5A | c.1218C>G (p.Asn406Lys) c.1089C>G (p.Asn363Lys) | ClinVar dbSNP |
3 | g.38606071G>T | CA014532 | SCN5A | c.1218C>A (p.Asn406Lys) c.1089C>A (p.Asn363Lys) | ClinVar dbSNP |
3 | g.38606071G>A | CA057362 | SCN5A | c.1218C>T (p.Asn406=) c.1089C>T (p.Asn363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |