| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967653G>C | CA367321216 | GLI3 | c.2374C>G (p.Arg792Gly) c.2200C>G (p.Arg734Gly) n.2351C>G c.2197C>G (p.Arg733Gly) c.2371C>G (p.Arg791Gly) | dbSNP |
| 7 | g.41967653G>T | CA454663103 | GLI3 | c.2374C>A (p.Arg792=) c.2200C>A (p.Arg734=) n.2351C>A c.2197C>A (p.Arg733=) c.2371C>A (p.Arg791=) | dbSNP |
| 7 | g.41967653G>A | CA256983 | GLI3 | c.2374C>T (p.Arg792Ter) c.2200C>T (p.Arg734Ter) n.2351C>T c.2197C>T (p.Arg733Ter) c.2371C>T (p.Arg791Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |