| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87264323A>C | CA250614 | POU1F1 | c.482T>G (p.Phe161Cys) c.404T>G (p.Phe135Cys) c.215-2088T>G (n.215-2088T>G) | ClinVar dbSNP |
| 3 | g.87264323A= | CA1381535021 | POU1F1 | c.482T= (p.Phe161=) c.404T= (p.Phe135=) c.215-2088T= (n.215-2088T=) | dbSNP |