| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.101771528G>A | CA377834450 | FGF8 | c.379C>T (p.Arg127Ter) c.67C>T (p.Arg23Ter) c.346C>T (p.Arg116Ter) c.259C>T (p.Arg87Ter) c.292C>T (p.Arg98Ter) c.*343C>T (n.*343C>T) n.255C>T c.301C>T (p.Arg101Ter) n.309G>A n.240G>A n.238G>A n.330G>A n.328G>A | ClinVar dbSNP COSMIC |
| 10 | g.101771528G>C | CA254660 | FGF8 | c.379C>G (p.Arg127Gly) c.67C>G (p.Arg23Gly) c.346C>G (p.Arg116Gly) c.259C>G (p.Arg87Gly) c.292C>G (p.Arg98Gly) c.*343C>G (n.*343C>G) n.255C>G c.301C>G (p.Arg101Gly) n.309G>C n.240G>C n.238G>C n.330G>C n.328G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |