| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963061G>T | CA128569 | FSHR | c.1760C>A (p.Pro587His) c.1682C>A (p.Pro561His) c.1862C>A (p.Pro621His) c.1529C>A (p.Pro510His) c.968C>A (p.Pro323His) c.956+5637C>A (n.956+5637C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48963061G= | CA1248750982 | FSHR | c.1760C= (p.Pro587=) c.1682C= (p.Pro561=) c.1862C= (p.Pro621=) c.1529C= (p.Pro510=) c.968C= (p.Pro323=) c.956+5637C= (n.956+5637C=) | dbSNP |
| 2 | g.48963061G>A | CA346766947 | FSHR | c.1760C>T (p.Pro587Leu) c.1682C>T (p.Pro561Leu) c.1862C>T (p.Pro621Leu) c.1529C>T (p.Pro510Leu) c.968C>T (p.Pro323Leu) c.956+5637C>T (n.956+5637C>T) | dbSNP gnomAD v4 |