| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550878G>C | CA019294 | SCN5A | c.5491C>G (p.Gln1831Glu) c.5494C>G (p.Gln1832Glu) c.5440C>G (p.Gln1814Glu) c.5332C>G (p.Gln1778Glu) c.5395C>G (p.Gln1799Glu) c.5365C>G (p.Gln1789Glu) c.5437C>G (p.Gln1813Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550878G>T | CA352140996 | SCN5A | c.5491C>A (p.Gln1831Lys) c.5494C>A (p.Gln1832Lys) c.5440C>A (p.Gln1814Lys) c.5332C>A (p.Gln1778Lys) c.5395C>A (p.Gln1799Lys) c.5365C>A (p.Gln1789Lys) c.5437C>A (p.Gln1813Lys) | ClinVar dbSNP |