| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963266G>T | CA126322 | FSHR | c.1555C>A (p.Pro519Thr) c.1477C>A (p.Pro493Thr) c.1657C>A (p.Pro553Thr) c.1324C>A (p.Pro442Thr) c.763C>A (p.Pro255Thr) c.956+5432C>A (n.956+5432C>A) | ClinVar dbSNP |
| 2 | g.48963266G>A | CA346767378 | FSHR | c.1555C>T (p.Pro519Ser) c.1477C>T (p.Pro493Ser) c.1657C>T (p.Pro553Ser) c.1324C>T (p.Pro442Ser) c.763C>T (p.Pro255Ser) c.956+5432C>T (n.956+5432C>T) | dbSNP gnomAD v2 gnomAD v4 |