| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551022C>T | CA019148 | SCN5A | c.5347G>A (p.Glu1783Lys) c.5350G>A (p.Glu1784Lys) c.5296G>A (p.Glu1766Lys) c.5188G>A (p.Glu1730Lys) c.5251G>A (p.Glu1751Lys) c.5221G>A (p.Glu1741Lys) c.5293G>A (p.Glu1765Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551022C>A | CA352141349 | SCN5A | c.5347G>T (p.Glu1783Ter) c.5350G>T (p.Glu1784Ter) c.5296G>T (p.Glu1766Ter) c.5188G>T (p.Glu1730Ter) c.5251G>T (p.Glu1751Ter) c.5221G>T (p.Glu1741Ter) c.5293G>T (p.Glu1765Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551022C>G | CA352141351 | SCN5A | c.5347G>C (p.Glu1783Gln) c.5350G>C (p.Glu1784Gln) c.5296G>C (p.Glu1766Gln) c.5188G>C (p.Glu1730Gln) c.5251G>C (p.Glu1751Gln) c.5221G>C (p.Glu1741Gln) c.5293G>C (p.Glu1765Gln) | ClinVar dbSNP gnomAD v4 |