| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87264299C>A | CA2501213 | POU1F1 | c.506G>T (p.Arg169Leu) c.428G>T (p.Arg143Leu) c.215-2064G>T (n.215-2064G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87264299C>T | CA250609 | POU1F1 | c.506G>A (p.Arg169Gln) c.428G>A (p.Arg143Gln) c.215-2064G>A (n.215-2064G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |