| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41978619C>A | CA256980 | GLI3 | c.1627G>T (p.Glu543Ter) c.1453G>T (p.Glu485Ter) n.1604G>T c.1450G>T (p.Glu484Ter) c.1624G>T (p.Glu542Ter) | ClinVar dbSNP |
| 7 | g.41978619C>T | CA367325461 | GLI3 | c.1627G>A (p.Glu543Lys) c.1453G>A (p.Glu485Lys) n.1604G>A c.1450G>A (p.Glu484Lys) c.1624G>A (p.Glu542Lys) | ClinVar dbSNP |