| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967878G>A | CA342923 | GLI3 | c.2149C>T (p.Gln717Ter) c.1975C>T (p.Gln659Ter) n.2126C>T c.1972C>T (p.Gln658Ter) c.2146C>T (p.Gln716Ter) | ClinVar dbSNP |
| 7 | g.41967878G= | CA1702661958 | GLI3 | c.2149C= (p.Gln717=) c.1975C= (p.Gln659=) n.2126C= c.1972C= (p.Gln658=) c.2146C= (p.Gln716=) | dbSNP |