| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958290C>T | CA369862839 | KCNH2 | n.1518G>A c.685G>A (p.Glu229Lys) c.337G>A (p.Glu113Lys) n.908G>A c.385G>A (p.Glu129Lys) c.535G>A (p.Glu179Lys) c.508G>A (p.Glu170Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958290C>A | CA008681 | KCNH2 | n.1518G>T c.685G>T (p.Glu229Ter) c.337G>T (p.Glu113Ter) n.908G>T c.385G>T (p.Glu129Ter) c.535G>T (p.Glu179Ter) c.508G>T (p.Glu170Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958290C= | CA1752418328 | KCNH2 | n.1518G= c.685G= (p.Glu229=) c.337G= (p.Glu113=) n.908G= c.385G= (p.Glu129=) c.535G= (p.Glu179=) c.508G= (p.Glu170=) | dbSNP |