Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48963475G>A | CA126314 | FSHR | c.1346C>T (p.Thr449Ile) c.1268C>T (p.Thr423Ile) c.1448C>T (p.Thr483Ile) c.1115C>T (p.Thr372Ile) c.554C>T (p.Thr185Ile) c.956+5223C>T (n.956+5223C>T) | ClinVar dbSNP |
2 | g.48963475G>T | CA1653674 | FSHR | c.1346C>A (p.Thr449Asn) c.1268C>A (p.Thr423Asn) c.1448C>A (p.Thr483Asn) c.1115C>A (p.Thr372Asn) c.554C>A (p.Thr185Asn) c.956+5223C>A (n.956+5223C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48963475G>C | CA346767835 | FSHR | c.1346C>G (p.Thr449Ser) c.1268C>G (p.Thr423Ser) c.1448C>G (p.Thr483Ser) c.1115C>G (p.Thr372Ser) c.554C>G (p.Thr185Ser) c.956+5223C>G (n.956+5223C>G) | dbSNP gnomAD v4 |