| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965617C>A | CA342943 | GLI3 | c.3456G>T (p.Glu1152Asp) c.3282G>T (p.Glu1094Asp) n.3433G>T c.3279G>T (p.Glu1093Asp) c.3453G>T (p.Glu1151Asp) | dbSNP |
| 7 | g.41965617C>G | CA156903979 | GLI3 | c.3456G>C (p.Glu1152Asp) c.3282G>C (p.Glu1094Asp) n.3433G>C c.3279G>C (p.Glu1093Asp) c.3453G>C (p.Glu1151Asp) | dbSNP |
| 7 | g.41965617C>T | CA454661948 | GLI3 | c.3456G>A (p.Glu1152=) c.3282G>A (p.Glu1094=) n.3433G>A c.3279G>A (p.Glu1093=) c.3453G>A (p.Glu1151=) | dbSNP gnomAD v4 |
| 7 | g.41965617C= | CA1702660846 | GLI3 | c.3456G= (p.Glu1152=) c.3282G= (p.Glu1094=) n.3433G= c.3279G= (p.Glu1093=) c.3453G= (p.Glu1151=) | dbSNP |