| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.11864577dup | CA130675 | GNAL | c.822dup (p.Arg275ThrfsTer13) c.591dup (p.Arg198ThrfsTer13) c.408dup (p.Arg137ThrfsTer13) c.303dup (p.Arg102ThrfsTer13) c.-31dup (n.-31dup) | ClinVar dbSNP |
| 18 | g.11864577A= | CA2284975228 | GNAL | c.822A= (p.Thr274=) c.591A= (p.Thr197=) c.408A= (p.Thr136=) c.303A= (p.Thr101=) c.-31A= (n.-31A=) | dbSNP dbSNP |