| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87264294T>A | CA250621 | POU1F1 | c.511A>T (p.Lys171Ter) c.433A>T (p.Lys145Ter) c.215-2059A>T (n.215-2059A>T) | ClinVar dbSNP |
| 3 | g.87264294T= | CA1381534973 | POU1F1 | c.511A= (p.Lys171=) c.433A= (p.Lys145=) c.215-2059A= (n.215-2059A=) | dbSNP |