| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963902C>G | CA1653750 | FSHR | c.919G>C (p.Ala307Pro) c.841G>C (p.Ala281Pro) c.733G>C (p.Ala245Pro) c.1021G>C (p.Ala341Pro) c.688G>C (p.Ala230Pro) c.127G>C (p.Ala43Pro) c.956+4796G>C (n.956+4796G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48963902C>T | CA126302 | FSHR | c.919G>A (p.Ala307Thr) c.841G>A (p.Ala281Thr) c.733G>A (p.Ala245Thr) c.1021G>A (p.Ala341Thr) c.688G>A (p.Ala230Thr) c.127G>A (p.Ala43Thr) c.956+4796G>A (n.956+4796G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48963902C>A | CA346768764 | FSHR | c.919G>T (p.Ala307Ser) c.841G>T (p.Ala281Ser) c.733G>T (p.Ala245Ser) c.1021G>T (p.Ala341Ser) c.688G>T (p.Ala230Ser) c.127G>T (p.Ala43Ser) c.956+4796G>T (n.956+4796G>T) | dbSNP |