Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.132888007T>C | CA4883348 | TG | c.2200T>C (p.Ser734Pro) c.1939T>C (p.Ser647Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132888007T>A | CA4883349 | TG | c.2200T>A (p.Ser734Thr) c.1939T>A (p.Ser647Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132888007T>G | CA122636 | TG | c.2200T>G (p.Ser734Ala) c.1939T>G (p.Ser647Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |