| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119421925G>A | CA121931 | HSD3B2 | c.424G>A (p.Glu142Lys) n.368G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119421925G>T | CA1035973 | HSD3B2 | c.424G>T (p.Glu142Ter) n.368G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119421925G= | CA1141187974 | HSD3B2 | c.424G= (p.Glu142=) n.368G= | dbSNP |