Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150951567T>C | CA005614 | KCNH2 | n.1124A>G n.2659A>G c.1826A>G (p.Asp609Gly) c.806A>G (p.Asp269Gly) c.1478A>G (p.Asp493Gly) n.1113A>G n.1131A>G n.2049A>G c.1526A>G (p.Asp509Gly) c.1676A>G (p.Asp559Gly) c.1649A>G (p.Asp550Gly) | ClinVar dbSNP |
7 | g.150951567T>G | CA369858001 | KCNH2 | n.1124A>C n.2659A>C c.1826A>C (p.Asp609Ala) c.806A>C (p.Asp269Ala) c.1478A>C (p.Asp493Ala) n.1113A>C n.1131A>C n.2049A>C c.1526A>C (p.Asp509Ala) c.1676A>C (p.Asp559Ala) c.1649A>C (p.Asp550Ala) | ClinVar dbSNP |