| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150945415C>A | CA169070340 | KCNH2 | n.4263G>T c.3430G>T (p.Ala1144Ser) c.2410G>T (p.Ala804Ser) c.3130G>T (p.Ala1044Ser) c.3280G>T (p.Ala1094Ser) c.3253G>T (p.Ala1085Ser) | dbSNP gnomAD v4 |
| 7 | g.150945415C>T | CA008308 | KCNH2 | n.4263G>A c.3430G>A (p.Ala1144Thr) c.2410G>A (p.Ala804Thr) c.3130G>A (p.Ala1044Thr) c.3280G>A (p.Ala1094Thr) c.3253G>A (p.Ala1085Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |