Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38606709C>A | CA014324 | SCN5A | c.1100G>T (p.Arg367Leu) c.971G>T (p.Arg324Leu) | ClinVar dbSNP |
3 | g.38606709C>T | CA014314 | SCN5A | c.1100G>A (p.Arg367His) c.971G>A (p.Arg324His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38606709C= | CA1358586276 | SCN5A | c.1100G= (p.Arg367=) c.971G= (p.Arg324=) | dbSNP |