| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142914327C>T | CA4906041 | CYP11B2,GML | c.891G>A (p.Ala297=) c.264+282C>T (n.264+282C>T) c.969G>A (p.Ala323=) c.297+282C>T (n.297+282C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142914327C>G | CA463506222 | CYP11B2,GML | c.891G>C (p.Ala297=) c.264+282C>G (n.264+282C>G) c.969G>C (p.Ala323=) c.297+282C>G (n.297+282C>G) | dbSNP |
| 8 | g.142914327C= | CA1825515484 | CYP11B2,GML | c.891G= (p.Ala297=) c.264+282C= (n.264+282C=) c.969G= (p.Ala323=) c.297+282C= (n.297+282C=) | dbSNP |
| 8 | g.142914327C>A | CA463506221 | CYP11B2,GML | c.891G>T (p.Ala297=) c.264+282C>A (n.264+282C>A) c.969G>T (p.Ala323=) c.297+282C>A (n.297+282C>A) | dbSNP |