| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87262161G>T | CA434575717 | POU1F1 | c.592C>A (p.Arg198=) c.514C>A (p.Arg172=) c.440-2057C>A (n.440-2057C>A) c.289C>A (p.Arg97=) | dbSNP |
| 3 | g.87262161G>A | CA250600 | POU1F1 | c.592C>T (p.Arg198Ter) c.514C>T (p.Arg172Ter) c.440-2057C>T (n.440-2057C>T) c.289C>T (p.Arg97Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |