| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150974752G>C | CA033852 | KCNH2 | c.266C>G (p.Ala89Gly) c.89C>G (p.Ala30Gly) n.489C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150974752G>A | CA007110 | KCNH2 | c.266C>T (p.Ala89Val) c.89C>T (p.Ala30Val) n.489C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150974752G= | CA1752461964 | KCNH2 | c.266C= (p.Ala89=) c.89C= (p.Ala30=) n.489C= | dbSNP |