| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.32493269C>G | CA253297 | FBXO7 | c.1132C>G (p.Arg378Gly) c.790C>G (p.Arg264Gly) c.*711C>G (n.*711C>G) c.*830C>G (n.*830C>G) c.895C>G (p.Arg299Gly) n.6148C>G c.664C>G (p.Arg222Gly) | ClinVar dbSNP |
| 22 | g.32493269C>T | CA10201651 | FBXO7 | c.1132C>T (p.Arg378Cys) c.790C>T (p.Arg264Cys) c.*711C>T (n.*711C>T) c.*830C>T (n.*830C>T) c.895C>T (p.Arg299Cys) n.6148C>T c.664C>T (p.Arg222Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |