| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119514535C>T | CA1036525 | HSD3B1 | c.1012C>T (p.Leu338=) c.1018C>T (p.Leu340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119514535C>G | CA341413195 | HSD3B1 | c.1012C>G (p.Leu338Val) c.1018C>G (p.Leu340Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.119514535C= | CA1139773113 | HSD3B1 | c.1012C= (p.Leu338=) c.1018C= (p.Leu340=) | dbSNP |