| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150946983G>A | CA008118 | KCNH2 | n.4057C>T c.3224C>T (p.Pro1075Leu) c.2204C>T (p.Pro735Leu) c.2924C>T (p.Pro975Leu) c.3074C>T (p.Pro1025Leu) c.3047C>T (p.Pro1016Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946983G>T | CA369852187 | KCNH2 | n.4057C>A c.3224C>A (p.Pro1075Gln) c.2204C>A (p.Pro735Gln) c.2924C>A (p.Pro975Gln) c.3074C>A (p.Pro1025Gln) c.3047C>A (p.Pro1016Gln) | ClinVar dbSNP |