| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142912850A>C | CA372387233 | CYP11B2,GML | c.1157T>G (p.Val386Gly) c.182-1113A>C (n.182-1113A>C) c.1304T>G (p.Val435Gly) c.1235T>G (p.Val412Gly) c.1226T>G (p.Val409Gly) c.215-1113A>C (n.215-1113A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142912850A>G | CA038824 | CYP11B2,GML | c.1157T>C (p.Val386Ala) c.182-1113A>G (n.182-1113A>G) c.1304T>C (p.Val435Ala) c.1235T>C (p.Val412Ala) c.1226T>C (p.Val409Ala) c.215-1113A>G (n.215-1113A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142912850A= | CA1825514640 | CYP11B2,GML | c.1157T= (p.Val386=) c.182-1113A= (n.182-1113A=) c.1304T= (p.Val435=) c.1235T= (p.Val412=) c.1226T= (p.Val409=) c.215-1113A= (n.215-1113A=) | dbSNP |