| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554412C>T | CA433134654 | SCN5A | c.4677G>A (p.Leu1559=) c.4680G>A (p.Leu1560=) c.4626G>A (p.Leu1542=) c.4518G>A (p.Leu1506=) n.138G>A c.4551G>A (p.Leu1517=) c.4623G>A (p.Leu1541=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554412C>G | CA018476 | SCN5A | c.4677G>C (p.Leu1559Phe) c.4680G>C (p.Leu1560Phe) c.4626G>C (p.Leu1542Phe) c.4518G>C (p.Leu1506Phe) n.138G>C c.4551G>C (p.Leu1517Phe) c.4623G>C (p.Leu1541Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |