| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87260022C>A | CA250611 | POU1F1 | c.826G>T (p.Glu276Ter) c.748G>T (p.Glu250Ter) c.522G>T (n.522G>T) c.523G>T (p.Glu175Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.87260022C= | CA1381564072 | POU1F1 | c.826G= (p.Glu276=) c.748G= (p.Glu250=) c.522G= (n.522G=) c.523G= (p.Glu175=) | dbSNP |