| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87262203C>T | CA2501176 | POU1F1 | c.550G>A (p.Ala184Thr) c.472G>A (p.Ala158Thr) c.439+2085G>A (n.439+2085G>A) c.247G>A (p.Ala83Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262203C>G | CA250605 | POU1F1 | c.550G>C (p.Ala184Pro) c.472G>C (p.Ala158Pro) c.439+2085G>C (n.439+2085G>C) c.247G>C (p.Ala83Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262203C>A | CA353693052 | POU1F1 | c.550G>T (p.Ala184Ser) c.472G>T (p.Ala158Ser) c.439+2085G>T (n.439+2085G>T) c.247G>T (p.Ala83Ser) | dbSNP |