| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41966506G>A | CA367320811 | GLI3 | c.2567C>T (p.Ser856Leu) c.2393C>T (p.Ser798Leu) n.2544C>T c.2390C>T (p.Ser797Leu) c.2564C>T (p.Ser855Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966506G>T | CA342932 | GLI3 | c.2567C>A (p.Ser856Ter) c.2393C>A (p.Ser798Ter) n.2544C>A c.2390C>A (p.Ser797Ter) c.2564C>A (p.Ser855Ter) | dbSNP |