Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38630327T>C | CA017507 | SCN5A | c.376A>G (p.Lys126Glu) n.289A>G n.571A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38630327T>A | CA352156916 | SCN5A | c.376A>T (p.Lys126Ter) n.289A>T n.571A>T | dbSNP |
3 | g.38630327T= | CA1358594468 | SCN5A | c.376A= (p.Lys126=) n.289A= n.571A= | dbSNP |