| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947833G>A | CA007260 | KCNH2 | n.3571C>T c.2738C>T (p.Ala913Val) c.1718C>T (p.Ala573Val) c.2438C>T (p.Ala813Val) c.2693-142C>T (n.2693-142C>T) c.2588C>T (p.Ala863Val) c.2561C>T (p.Ala854Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947833G>C | CA369853487 | KCNH2 | n.3571C>G c.2738C>G (p.Ala913Gly) c.1718C>G (p.Ala573Gly) c.2438C>G (p.Ala813Gly) c.2693-142C>G (n.2693-142C>G) c.2588C>G (p.Ala863Gly) c.2561C>G (p.Ala854Gly) | dbSNP |
| 7 | g.150947833G= | CA1752430441 | KCNH2 | n.3571C= c.2738C= (p.Ala913=) c.1718C= (p.Ala573=) c.2438C= (p.Ala813=) c.2693-142C= (n.2693-142C=) c.2588C= (p.Ala863=) c.2561C= (p.Ala854=) | dbSNP |
| 7 | g.150947833G>T | CA369853488 | KCNH2 | n.3571C>A c.2738C>A (p.Ala913Glu) c.1718C>A (p.Ala573Glu) c.2438C>A (p.Ala813Glu) c.2693-142C>A (n.2693-142C>A) c.2588C>A (p.Ala863Glu) c.2561C>A (p.Ala854Glu) | ClinVar dbSNP gnomAD v4 |