| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31580636G>C | CA224901 | SRD5A2 | c.265C>G (p.Leu89Val) c.27-46870C>G (n.27-46870C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.31580636G>A | CA425626883 | SRD5A2 | c.265C>T (p.Leu89=) c.27-46870C>T (n.27-46870C>T) | dbSNP gnomAD v4 |
| 2 | g.31580636G>T | CA346598792 | SRD5A2 | c.265C>A (p.Leu89Ile) c.27-46870C>A (n.27-46870C>A) | dbSNP gnomAD v2 gnomAD v4 |