| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963097G>A | CA144121 | FSHR | c.1724C>T (p.Ala575Val) c.1646C>T (p.Ala549Val) c.1826C>T (p.Ala609Val) c.1493C>T (p.Ala498Val) c.932C>T (p.Ala311Val) c.956+5601C>T (n.956+5601C>T) | ClinVar dbSNP |
| 2 | g.48963097G= | CA1248750997 | FSHR | c.1724C= (p.Ala575=) c.1646C= (p.Ala549=) c.1826C= (p.Ala609=) c.1493C= (p.Ala498=) c.932C= (p.Ala311=) c.956+5601C= (n.956+5601C=) | dbSNP |