| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119422620A>C | CA121929 | HSD3B2 | c.1119A>C (p.Ter373Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119422620A>G | CA1036104 | HSD3B2 | c.1119A>G (p.Ter373Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119422620A= | CA1141187982 | HSD3B2 | c.1119A= (p.Ter373=) | dbSNP |