| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48963566C>G | CA346768035 | FSHR | c.1255G>C (p.Ala419Pro) c.1177G>C (p.Ala393Pro) c.1357G>C (p.Ala453Pro) c.1024G>C (p.Ala342Pro) c.463G>C (p.Ala155Pro) c.956+5132G>C (n.956+5132G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.48963566C>T | CA126310 | FSHR | c.1255G>A (p.Ala419Thr) c.1177G>A (p.Ala393Thr) c.1357G>A (p.Ala453Thr) c.1024G>A (p.Ala342Thr) c.463G>A (p.Ala155Thr) c.956+5132G>A (n.956+5132G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48963566C>A | CA346768034 | FSHR | c.1255G>T (p.Ala419Ser) c.1177G>T (p.Ala393Ser) c.1357G>T (p.Ala453Ser) c.1024G>T (p.Ala342Ser) c.463G>T (p.Ala155Ser) c.956+5132G>T (n.956+5132G>T) | dbSNP |
| 2 | g.48963566C= | CA1248751218 | FSHR | c.1255G= (p.Ala419=) c.1177G= (p.Ala393=) c.1357G= (p.Ala453=) c.1024G= (p.Ala342=) c.463G= (p.Ala155=) c.956+5132G= (n.956+5132G=) | dbSNP |