| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31531376G>A | CA16042440 | SRD5A2 | c.542C>T (p.Pro181Leu) c.320C>T (p.Pro107Leu) c.287C>T (p.Pro96Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.31531376G= | CA1242198304 | SRD5A2 | c.542C= (p.Pro181=) c.320C= (p.Pro107=) c.287C= (p.Pro96=) | dbSNP |