| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87262138G>C | CA250629 | POU1F1 | c.615C>G (p.Ser205Arg) c.537C>G (p.Ser179Arg) c.440-2034C>G (n.440-2034C>G) c.312C>G (p.Ser104Arg) | ClinVar dbSNP |
| 3 | g.87262138G= | CA1381533002 | POU1F1 | c.615C= (p.Ser205=) c.537C= (p.Ser179=) c.440-2034C= (n.440-2034C=) c.312C= (p.Ser104=) | dbSNP |