Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38585879C>A | CA352142088 | SCN5A | c.2599G>T (p.Glu867Ter) c.2470G>T (p.Glu824Ter) | dbSNP |
3 | g.38585879C>G | CA016307 | SCN5A | c.2599G>C (p.Glu867Gln) c.2470G>C (p.Glu824Gln) | ClinVar dbSNP |
3 | g.38585879C>T | CA352142091 | SCN5A | c.2599G>A (p.Glu867Lys) c.2470G>A (p.Glu824Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |