| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87262098A>G | CA250619 | POU1F1 | c.655T>C (p.Trp219Arg) c.577T>C (p.Trp193Arg) c.440-1994T>C (n.440-1994T>C) c.352T>C (p.Trp118Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87262098A= | CA1381532945 | POU1F1 | c.655T= (p.Trp219=) c.577T= (p.Trp193=) c.440-1994T= (n.440-1994T=) c.352T= (p.Trp118=) | dbSNP |