| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41972417del | CA341301 | GLI3 | c.2023del (p.Glu675SerfsTer18) c.1849del (p.Glu617SerfsTer18) n.2000del c.1846del (p.Glu616SerfsTer18) c.2020del (p.Glu674SerfsTer18) | ClinVar dbSNP |
| 7 | g.41972417C= | CA1702647773 | GLI3 | c.2023G= (p.Glu675=) c.1849G= (p.Glu617=) n.2000G= c.1846G= (p.Glu616=) c.2020G= (p.Glu674=) | dbSNP dbSNP |