| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87260055G>A | CA250616 | POU1F1 | c.793C>T (p.Pro265Ser) c.715C>T (p.Pro239Ser) c.489C>T (p.Asn163=) c.490C>T (p.Pro164Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.87260055G= | CA1381564106 | POU1F1 | c.793C= (p.Pro265=) c.715C= (p.Pro239=) c.489C= (p.Asn163=) c.490C= (p.Pro164=) | dbSNP |