| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87260082C>T | CA250624 | POU1F1 | c.766G>A (p.Glu256Lys) c.688G>A (p.Glu230Lys) c.462G>A (p.Trp154Ter) c.463G>A (p.Glu155Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87260082C= | CA1381564155 | POU1F1 | c.766G= (p.Glu256=) c.688G= (p.Glu230=) c.462G= (p.Trp154=) c.463G= (p.Glu155=) | dbSNP |