Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67435830C>A | CA8110624 | HSD11B2 | c.468C>A (p.Thr156=) c.446C>A (n.446C>A) n.331C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67435830C>G | CA8110625 | HSD11B2 | c.468C>G (p.Thr156=) c.446C>G (n.446C>G) n.331C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67435830C>T | CA496082371 | HSD11B2 | c.468C>T (p.Thr156=) c.446C>T (n.446C>T) n.331C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |