Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38604035G>A | CA014976 | SCN5A | c.1567C>T (p.Arg523Cys) c.1438C>T (p.Arg480Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38604035G>T | CA352147430 | SCN5A | c.1567C>A (p.Arg523Ser) c.1438C>A (p.Arg480Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38604035G= | CA1358585028 | SCN5A | c.1567C= (p.Arg523=) c.1438C= (p.Arg480=) | dbSNP |