| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119514623C>T | CA341413857 | HSD3B1 | c.1100C>T (p.Thr367Ile) c.1106C>T (p.Thr369Ile) | dbSNP |
| 1 | g.119514623C>G | CA341413854 | HSD3B1 | c.1100C>G (p.Thr367Ser) c.1106C>G (p.Thr369Ser) | dbSNP |
| 1 | g.119514623C>A | CA1036549 | HSD3B1 | c.1100C>A (p.Thr367Asn) c.1106C>A (p.Thr369Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |