| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142915047T>G | CA038911 | CYP11B2,GML | c.594A>C (p.Glu198Asp) c.264+1002T>G (n.264+1002T>G) c.672A>C (p.Glu224Asp) c.297+1002T>G (n.297+1002T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142915047T= | CA1825515918 | CYP11B2,GML | c.594A= (p.Glu198=) c.264+1002T= (n.264+1002T=) c.672A= (p.Glu224=) c.297+1002T= (n.297+1002T=) | dbSNP |
| 8 | g.142915047T>A | CA372390288 | CYP11B2,GML | c.594A>T (p.Glu198Asp) c.264+1002T>A (n.264+1002T>A) c.672A>T (p.Glu224Asp) c.297+1002T>A (n.297+1002T>A) | ClinVar dbSNP |