| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948971G>C | CA369855140 | KCNH2 | n.3310C>G c.2477C>G (p.Thr826Ser) c.1457C>G (p.Thr486Ser) c.2177C>G (p.Thr726Ser) c.2327C>G (p.Thr776Ser) c.2300C>G (p.Thr767Ser) | dbSNP |
| 7 | g.150948971G>A | CA006823 | KCNH2 | n.3310C>T c.2477C>T (p.Thr826Ile) c.1457C>T (p.Thr486Ile) c.2177C>T (p.Thr726Ile) c.2327C>T (p.Thr776Ile) c.2300C>T (p.Thr767Ile) | ClinVar dbSNP gnomAD v4 |