Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150948996A>C | CA369855238 | KCNH2 | n.3285T>G c.2452T>G (p.Ser818Ala) c.1432T>G (p.Ser478Ala) c.2152T>G (p.Ser718Ala) c.2302T>G (p.Ser768Ala) c.2275T>G (p.Ser759Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150948996A>G | CA006757 | KCNH2 | n.3285T>C c.2452T>C (p.Ser818Pro) c.1432T>C (p.Ser478Pro) c.2152T>C (p.Ser718Pro) c.2302T>C (p.Ser768Pro) c.2275T>C (p.Ser759Pro) | ClinVar dbSNP |