| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142875877G>A | CA339881 | CYP11B1,GML | c.956C>T (p.Thr319Met) n.1351C>T c.1169C>T (p.Thr390Met) c.181+34652G>A (n.181+34652G>A) c.1034C>T (p.Thr345Met) c.773C>T (p.Thr258Met) c.214+34652G>A (n.214+34652G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142875877G>C | CA372394596 | CYP11B1,GML | c.956C>G (p.Thr319Arg) n.1351C>G c.1169C>G (p.Thr390Arg) c.181+34652G>C (n.181+34652G>C) c.1034C>G (p.Thr345Arg) c.773C>G (p.Thr258Arg) c.214+34652G>C (n.214+34652G>C) | dbSNP gnomAD v4 |
| 8 | g.142875877G= | CA1825496664 | CYP11B1,GML | c.956C= (p.Thr319=) n.1351C= c.1169C= (p.Thr390=) c.181+34652G= (n.181+34652G=) c.1034C= (p.Thr345=) c.773C= (p.Thr258=) c.214+34652G= (n.214+34652G=) | dbSNP |