Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150948984C>T | CA006796 | KCNH2 | n.3297G>A c.2464G>A (p.Val822Met) c.1444G>A (p.Val482Met) c.2164G>A (p.Val722Met) c.2314G>A (p.Val772Met) c.2287G>A (p.Val763Met) | ClinVar dbSNP |
7 | g.150948984C>G | CA006804 | KCNH2 | n.3297G>C c.2464G>C (p.Val822Leu) c.1444G>C (p.Val482Leu) c.2164G>C (p.Val722Leu) c.2314G>C (p.Val772Leu) c.2287G>C (p.Val763Leu) | ClinVar dbSNP |