| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48983125G>T | CA346771062 | FSHR | c.566C>A (p.Ala189Glu) c.488C>A (p.Ala163Glu) c.*358C>A (n.*358C>A) n.327C>A c.233C>A (p.Ala78Glu) c.-329C>A (n.-329C>A) c.-227C>A (n.-227C>A) | dbSNP |
| 2 | g.48983125G>A | CA126291 | FSHR | c.566C>T (p.Ala189Val) c.488C>T (p.Ala163Val) c.*358C>T (n.*358C>T) n.327C>T c.233C>T (p.Ala78Val) c.-329C>T (n.-329C>T) c.-227C>T (n.-227C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |