| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48968881T>C | CA346769310 | FSHR | c.671A>G (p.Asp224Gly) c.593A>G (p.Asp198Gly) c.669-4915A>G (n.669-4915A>G) n.432A>G c.773A>G (p.Asp258Gly) c.440A>G (p.Asp147Gly) c.-122A>G (n.-122A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48968881T>A | CA144130 | FSHR | c.671A>T (p.Asp224Val) c.593A>T (p.Asp198Val) c.669-4915A>T (n.669-4915A>T) n.432A>T c.773A>T (p.Asp258Val) c.440A>T (p.Asp147Val) c.-122A>T (n.-122A>T) | ClinVar dbSNP |