| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41967881G>A | CA342921 | GLI3 | c.2146C>T (p.Gln716Ter) c.1972C>T (p.Gln658Ter) n.2123C>T c.1969C>T (p.Gln657Ter) c.2143C>T (p.Gln715Ter) | ClinVar dbSNP |
| 7 | g.41967881G= | CA1702661960 | GLI3 | c.2146C= (p.Gln716=) c.1972C= (p.Gln658=) n.2123C= c.1969C= (p.Gln657=) c.2143C= (p.Gln715=) | dbSNP |