| 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 |
| 2 | g.48968881T= | CA1248753969 | FSHR | c.671A= (p.Asp224=) c.593A= (p.Asp198=) c.669-4915A= (n.669-4915A=) n.432A= c.773A= (p.Asp258=) c.440A= (p.Asp147=) c.-122A= (n.-122A=) | dbSNP |
| 2 | g.48968881T>G | CA346769311 | FSHR | c.671A>C (p.Asp224Ala) c.593A>C (p.Asp198Ala) c.669-4915A>C (n.669-4915A>C) n.432A>C c.773A>C (p.Asp258Ala) c.440A>C (p.Asp147Ala) c.-122A>C (n.-122A>C) | dbSNP gnomAD v4 |