| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142914345C>A | CA463506241 | CYP11B2,GML | c.873G>T (p.Ala291=) c.264+300C>A (n.264+300C>A) c.951G>T (p.Ala317=) c.297+300C>A (n.297+300C>A) | dbSNP |
| 8 | g.142914345C>T | CA4906046 | CYP11B2,GML | c.873G>A (p.Ala291=) c.264+300C>T (n.264+300C>T) c.951G>A (p.Ala317=) c.297+300C>T (n.297+300C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |