| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.31529323C>G | CA1599869 | SRD5A2 | c.682G>C (p.Ala228Pro) c.460G>C (p.Ala154Pro) c.427G>C (p.Ala143Pro) | dbSNP ExAC gnomAD v2 |
| 2 | g.31529323C>T | CA340077 | SRD5A2 | c.682G>A (p.Ala228Thr) c.460G>A (p.Ala154Thr) c.427G>A (p.Ala143Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.31529323C= | CA1242197372 | SRD5A2 | c.682G= (p.Ala228=) c.460G= (p.Ala154=) c.427G= (p.Ala143=) | dbSNP |