| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64615716A>G | CA4764147 | CYP7B1 | c.825T>C (p.Tyr275=) n.99T>C c.891T>C (p.Tyr297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615716A>T | CA210944 | CYP7B1 | c.825T>A (p.Tyr275Ter) n.99T>A c.891T>A (p.Tyr297Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |