Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38633228C>A | CA056875 | SCN5A | c.80G>T (p.Arg27Leu) n.275G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38633228C>T | CA019812 | SCN5A | c.80G>A (p.Arg27His) n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38633228C= | CA1358597423 | SCN5A | c.80G= (p.Arg27=) n.275G= | dbSNP |