| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31529419C>G | CA346598068 | SRD5A2 | c.586G>C (p.Gly196Arg) c.364G>C (p.Gly122Arg) c.331G>C (p.Gly111Arg) | ClinVar dbSNP |
| 2 | g.31529419C>A | CA346598067 | SRD5A2 | c.586G>T (p.Gly196Cys) c.364G>T (p.Gly122Cys) c.331G>T (p.Gly111Cys) | dbSNP |
| 2 | g.31529419C>T | CA340079 | SRD5A2 | c.586G>A (p.Gly196Ser) c.364G>A (p.Gly122Ser) c.331G>A (p.Gly111Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |