| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550521C>A | CA019509 | SCN5A | c.5848G>T (p.Val1950Leu) c.5851G>T (p.Val1951Leu) c.5797G>T (p.Val1933Leu) c.5689G>T (p.Val1897Leu) c.5752G>T (p.Val1918Leu) c.5722G>T (p.Val1908Leu) c.5794G>T (p.Val1932Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550521C>G | CA352139705 | SCN5A | c.5848G>C (p.Val1950Leu) c.5851G>C (p.Val1951Leu) c.5797G>C (p.Val1933Leu) c.5689G>C (p.Val1897Leu) c.5752G>C (p.Val1918Leu) c.5722G>C (p.Val1908Leu) c.5794G>C (p.Val1932Leu) | dbSNP gnomAD v4 |
| 3 | g.38550521C>T | CA019505 | SCN5A | c.5848G>A (p.Val1950Met) c.5851G>A (p.Val1951Met) c.5797G>A (p.Val1933Met) c.5689G>A (p.Val1897Met) c.5752G>A (p.Val1918Met) c.5722G>A (p.Val1908Met) c.5794G>A (p.Val1932Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |