| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38555697G>C | CA018357 | SCN5A | c.4498C>G (p.Leu1500Val) c.4501C>G (p.Leu1501Val) c.4447C>G (p.Leu1483Val) c.4339C>G (p.Leu1447Val) c.4372C>G (p.Leu1458Val) c.4444C>G (p.Leu1482Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38555697G= | CA1358562893 | SCN5A | c.4498C= (p.Leu1500=) c.4501C= (p.Leu1501=) c.4447C= (p.Leu1483=) c.4339C= (p.Leu1447=) c.4372C= (p.Leu1458=) c.4444C= (p.Leu1482=) | dbSNP |