| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48962782C>T | CA126306 | FSHR | c.2039G>A (p.Ser680Asn) c.1961G>A (p.Ser654Asn) c.2141G>A (p.Ser714Asn) c.1808G>A (p.Ser603Asn) c.1247G>A (p.Ser416Asn) c.956+5916G>A (n.956+5916G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48962782C= | CA1248750857 | FSHR | c.2039G= (p.Ser680=) c.1961G= (p.Ser654=) c.2141G= (p.Ser714=) c.1808G= (p.Ser603=) c.1247G= (p.Ser416=) c.956+5916G= (n.956+5916G=) | dbSNP |
| 2 | g.48962782C>A | CA346766360 | FSHR | c.2039G>T (p.Ser680Ile) c.1961G>T (p.Ser654Ile) c.2141G>T (p.Ser714Ile) c.1808G>T (p.Ser603Ile) c.1247G>T (p.Ser416Ile) c.956+5916G>T (n.956+5916G>T) | dbSNP |
| 2 | g.48962782C>G | CA346766361 | FSHR | c.2039G>C (p.Ser680Thr) c.1961G>C (p.Ser654Thr) c.2141G>C (p.Ser714Thr) c.1808G>C (p.Ser603Thr) c.1247G>C (p.Ser416Thr) c.956+5916G>C (n.956+5916G>C) | dbSNP |