| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41965687_41965688del | CA342942 | GLI3 | c.3386_3387del (p.Phe1129Ter) c.3212_3213del (p.Phe1071Ter) n.3363_3364del c.3209_3210del (p.Phe1070Ter) c.3383_3384del (p.Phe1128Ter) | ClinVar dbSNP |
| 7 | g.41965688del | CA156904137 | GLI3 | c.3387del (p.Phe1129LeufsTer?) c.3213del (p.Phe1071LeufsTer?) n.3364del c.3210del (p.Phe1070LeufsTer?) c.3384del (p.Phe1128LeufsTer?) | dbSNP |