Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566531C>A | CA352149310 | SCN5A | c.3715G>T (p.Glu1239Ter) c.3718G>T (p.Glu1240Ter) c.3556G>T (p.Glu1186Ter) c.3589G>T (p.Glu1197Ter) | dbSNP |
3 | g.38566531C>G | CA017461 | SCN5A | c.3715G>C (p.Glu1239Gln) c.3718G>C (p.Glu1240Gln) c.3556G>C (p.Glu1186Gln) c.3589G>C (p.Glu1197Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |