| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963476T>C | CA126326 | FSHR | c.1345A>G (p.Thr449Ala) c.1267A>G (p.Thr423Ala) c.1447A>G (p.Thr483Ala) c.1114A>G (p.Thr372Ala) c.553A>G (p.Thr185Ala) c.956+5222A>G (n.956+5222A>G) | ClinVar dbSNP |
| 2 | g.48963476T= | CA1248751180 | FSHR | c.1345A= (p.Thr449=) c.1267A= (p.Thr423=) c.1447A= (p.Thr483=) c.1114A= (p.Thr372=) c.553A= (p.Thr185=) c.956+5222A= (n.956+5222A=) | dbSNP |
| 2 | g.48963476T>G | CA346767837 | FSHR | c.1345A>C (p.Thr449Pro) c.1267A>C (p.Thr423Pro) c.1447A>C (p.Thr483Pro) c.1114A>C (p.Thr372Pro) c.553A>C (p.Thr185Pro) c.956+5222A>C (n.956+5222A>C) | dbSNP gnomAD v4 |