| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142875730G>T | CA339884 | CYP11B1,GML | c.1103C>A (p.Ala368Asp) n.1498C>A c.1316C>A (p.Ala439Asp) c.68C>A (p.Ala23Asp) c.181+34505G>T (n.181+34505G>T) c.1181C>A (p.Ala394Asp) c.920C>A (p.Ala307Asp) c.214+34505G>T (n.214+34505G>T) | ClinVar dbSNP |
| 8 | g.142875730G= | CA1825496579 | CYP11B1,GML | c.1103C= (p.Ala368=) n.1498C= c.1316C= (p.Ala439=) c.68C= (p.Ala23=) c.181+34505G= (n.181+34505G=) c.1181C= (p.Ala394=) c.920C= (p.Ala307=) c.214+34505G= (n.214+34505G=) | dbSNP |