| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67436115C>A | CA396279663 | HSD11B2 | c.637C>A (p.Arg213Ser) c.615C>A (n.615C>A) n.500C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.67436115C>T | CA121880 | HSD11B2 | c.637C>T (p.Arg213Cys) c.615C>T (n.615C>T) n.500C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.67436115C= | CA2229309732 | HSD11B2 | c.637C= (p.Arg213=) c.615C= (n.615C=) n.500C= | dbSNP |