| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150959642del | CA16612199 | KCNH2 | n.1235del c.402del (p.Lys135ArgfsTer?) c.225del (p.Lys76ArgfsTer9) n.625del c.102del (p.Lys35ArgfsTer?) c.252del (p.Lys85ArgfsTer?) c.225del (p.Lys76ArgfsTer?) | ClinVar dbSNP |
| 7 | g.150959642C= | CA3146465432 | KCNH2 | n.1235G= c.402G= (p.Glu134=) c.225G= (p.Glu75=) n.625G= c.102G= (p.Glu34=) c.252G= (p.Glu84=) | dbSNP |