| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963187A>G | CA126330 | FSHR | c.1634T>C (p.Ile545Thr) c.1556T>C (p.Ile519Thr) c.1736T>C (p.Ile579Thr) c.1403T>C (p.Ile468Thr) c.842T>C (p.Ile281Thr) c.956+5511T>C (n.956+5511T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48963187A>T | CA346767215 | FSHR | c.1634T>A (p.Ile545Asn) c.1556T>A (p.Ile519Asn) c.1736T>A (p.Ile579Asn) c.1403T>A (p.Ile468Asn) c.842T>A (p.Ile281Asn) c.956+5511T>A (n.956+5511T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.48963187A= | CA1248751048 | FSHR | c.1634T= (p.Ile545=) c.1556T= (p.Ile519=) c.1736T= (p.Ile579=) c.1403T= (p.Ile468=) c.842T= (p.Ile281=) c.956+5511T= (n.956+5511T=) | dbSNP |