| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38562537C>T | CA352148292 | SCN5A | c.3838G>A (p.Val1280Ile) c.3841G>A (p.Val1281Ile) c.3679G>A (p.Val1227Ile) c.3712G>A (p.Val1238Ile) | dbSNP gnomAD v4 |
| 3 | g.38562537C>G | CA352148291 | SCN5A | c.3838G>C (p.Val1280Leu) c.3841G>C (p.Val1281Leu) c.3679G>C (p.Val1227Leu) c.3712G>C (p.Val1238Leu) | ClinVar dbSNP |
| 3 | g.38562537C>A | CA017557 | SCN5A | c.3838G>T (p.Val1280Phe) c.3841G>T (p.Val1281Phe) c.3679G>T (p.Val1227Phe) c.3712G>T (p.Val1238Phe) | ClinVar dbSNP COSMIC |