| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958430G>A | CA369863361 | KCNH2 | n.1378C>T c.545C>T (p.Ser182Leu) c.235-38C>T (n.235-38C>T) n.768C>T c.245C>T (p.Ser82Leu) c.395C>T (p.Ser132Leu) c.368C>T (p.Ser123Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150958430G>T | CA16042695 | KCNH2 | n.1378C>A c.545C>A (p.Ser182Ter) c.235-38C>A (n.235-38C>A) n.768C>A c.245C>A (p.Ser82Ter) c.395C>A (p.Ser132Ter) c.368C>A (p.Ser123Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958430G>C | CA16612317 | KCNH2 | n.1378C>G c.545C>G (p.Ser182Trp) c.235-38C>G (n.235-38C>G) n.768C>G c.245C>G (p.Ser82Trp) c.395C>G (p.Ser132Trp) c.368C>G (p.Ser123Trp) | ClinVar dbSNP gnomAD v4 |