| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963020G>C | CA144124 | FSHR | c.1801C>G (p.Leu601Val) c.1723C>G (p.Leu575Val) c.1903C>G (p.Leu635Val) c.1570C>G (p.Leu524Val) c.1009C>G (p.Leu337Val) c.956+5678C>G (n.956+5678C>G) | ClinVar dbSNP |
| 2 | g.48963020G= | CA1248750965 | FSHR | c.1801C= (p.Leu601=) c.1723C= (p.Leu575=) c.1903C= (p.Leu635=) c.1570C= (p.Leu524=) c.1009C= (p.Leu337=) c.956+5678C= (n.956+5678C=) | dbSNP |