| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64604753G>A | CA117938 | CYP7B1 | c.1162C>T (p.Arg388Ter) n.436C>T c.1228C>T (p.Arg410Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64604753G>C | CA371334137 | CYP7B1 | c.1162C>G (p.Arg388Gly) n.436C>G c.1228C>G (p.Arg410Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64604753G= | CA1789659701 | CYP7B1 | c.1162C= (p.Arg388=) n.436C= c.1228C= (p.Arg410=) | dbSNP |