Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38622401C>A | CA352154487 | SCN5A | c.481G>T (p.Glu161Ter) n.676G>T | dbSNP gnomAD v4 |
3 | g.38622401C>T | CA018588 | SCN5A | c.481G>A (p.Glu161Lys) n.676G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38622401C>G | CA018595 | SCN5A | c.481G>C (p.Glu161Gln) n.676G>C | ClinVar dbSNP |