| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67436264C>T | CA121886 | HSD11B2 | c.680C>T (p.Pro227Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67436264C>G | CA396280201 | HSD11B2 | c.680C>G (p.Pro227Arg) | dbSNP |
| 16 | g.67436264C>A | CA396280199 | HSD11B2 | c.680C>A (p.Pro227Gln) | dbSNP gnomAD v4 |
| 16 | g.67436264C= | CA2229309992 | HSD11B2 | c.680C= (p.Pro227=) | dbSNP |