| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963104G>A | CA126298 | FSHR | c.1717C>T (p.Arg573Cys) c.1639C>T (p.Arg547Cys) c.1819C>T (p.Arg607Cys) c.1486C>T (p.Arg496Cys) c.925C>T (p.Arg309Cys) c.956+5594C>T (n.956+5594C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48963104G= | CA1248751003 | FSHR | c.1717C= (p.Arg573=) c.1639C= (p.Arg547=) c.1819C= (p.Arg607=) c.1486C= (p.Arg496=) c.925C= (p.Arg309=) c.956+5594C= (n.956+5594C=) | dbSNP |