| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87262160C>T | CA250626 | POU1F1 | c.593G>A (p.Arg198Gln) c.515G>A (p.Arg172Gln) c.440-2056G>A (n.440-2056G>A) c.290G>A (p.Arg97Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.87262160C>A | CA353692890 | POU1F1 | c.593G>T (p.Arg198Leu) c.515G>T (p.Arg172Leu) c.440-2056G>T (n.440-2056G>T) c.290G>T (p.Arg97Leu) | dbSNP gnomAD v4 |
| 3 | g.87262160C= | CA1381533039 | POU1F1 | c.593G= (p.Arg198=) c.515G= (p.Arg172=) c.440-2056G= (n.440-2056G=) c.290G= (p.Arg97=) | dbSNP |