| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965634C>T | CA367318036 | GLI3 | c.3439G>A (p.Glu1147Lys) c.3265G>A (p.Glu1089Lys) n.3416G>A c.3262G>A (p.Glu1088Lys) c.3436G>A (p.Glu1146Lys) | dbSNP gnomAD v4 |
| 7 | g.41965634C>G | CA4230363 | GLI3 | c.3439G>C (p.Glu1147Gln) c.3265G>C (p.Glu1089Gln) n.3416G>C c.3262G>C (p.Glu1088Gln) c.3436G>C (p.Glu1146Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41965634C>A | CA341303 | GLI3 | c.3439G>T (p.Glu1147Ter) c.3265G>T (p.Glu1089Ter) n.3416G>T c.3262G>T (p.Glu1088Ter) c.3436G>T (p.Glu1146Ter) | ClinVar dbSNP |