| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31529414C>A | CA340085 | SRD5A2 | c.591G>T (p.Glu197Asp) c.369G>T (p.Glu123Asp) c.336G>T (p.Glu112Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.31529414C= | CA1242197414 | SRD5A2 | c.591G= (p.Glu197=) c.369G= (p.Glu123=) c.336G= (p.Glu112=) | dbSNP |
| 2 | g.31529414C>T | CA425567470 | SRD5A2 | c.591G>A (p.Glu197=) c.369G>A (p.Glu123=) c.336G>A (p.Glu112=) | dbSNP gnomAD v4 |