| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963122C>T | CA126318 | FSHR | c.1699G>A (p.Asp567Asn) c.1621G>A (p.Asp541Asn) c.1801G>A (p.Asp601Asn) c.1468G>A (p.Asp490Asn) c.907G>A (p.Asp303Asn) c.956+5576G>A (n.956+5576G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48963122C= | CA1248751013 | FSHR | c.1699G= (p.Asp567=) c.1621G= (p.Asp541=) c.1801G= (p.Asp601=) c.1468G= (p.Asp490=) c.907G= (p.Asp303=) c.956+5576G= (n.956+5576G=) | dbSNP |