| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.120978500C>G | CA256990 | GLI2 | c.1384C>G (p.Arg462Gly) c.1435C>G (p.Arg479Gly) c.448C>G (p.Arg150Gly) c.*483C>G (n.*483C>G) n.1409C>G c.*534C>G (n.*534C>G) c.1417C>G (p.Arg473Gly) c.1294C>G (p.Arg432Gly) c.1240C>G (p.Arg414Gly) c.1060C>G (p.Arg354Gly) c.1009C>G (p.Arg337Gly) c.1687C>G (p.Arg563Gly) c.1336C>G (p.Arg446Gly) c.1636C>G (p.Arg546Gly) | ClinVar dbSNP |
| 2 | g.120978500C>T | CA1851903 | GLI2 | c.1384C>T (p.Arg462Trp) c.1435C>T (p.Arg479Trp) c.448C>T (p.Arg150Trp) c.*483C>T (n.*483C>T) n.1409C>T c.*534C>T (n.*534C>T) c.1417C>T (p.Arg473Trp) c.1294C>T (p.Arg432Trp) c.1240C>T (p.Arg414Trp) c.1060C>T (p.Arg354Trp) c.1009C>T (p.Arg337Trp) c.1687C>T (p.Arg563Trp) c.1336C>T (p.Arg446Trp) c.1636C>T (p.Arg546Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |