| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48950462C>G | CA1248744042 | FSHR | c.957-5553G>C (n.957-5553G>C) c.956+18236G>C (n.956+18236G>C) | dbSNP |
| 2 | g.48950462C>T | CA15207645 | FSHR | c.957-5553G>A (n.957-5553G>A) c.956+18236G>A (n.956+18236G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |