| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963778G>C | CA144118 | FSHR | c.1043C>G (p.Pro348Arg) c.965C>G (p.Pro322Arg) c.1145C>G (p.Pro382Arg) c.812C>G (p.Pro271Arg) c.251C>G (p.Pro84Arg) c.956+4920C>G (n.956+4920C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48963778G= | CA1248751311 | FSHR | c.1043C= (p.Pro348=) c.965C= (p.Pro322=) c.1145C= (p.Pro382=) c.812C= (p.Pro271=) c.251C= (p.Pro84=) c.956+4920C= (n.956+4920C=) | dbSNP |