| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142879080C>T | CA339878 | CYP11B1,GML | c.347G>A (p.Trp116Ter) n.380G>A c.482G>A (p.Trp161Ter) c.182-34883C>T (n.182-34883C>T) c.86G>A (p.Trp29Ter) c.215-34883C>T (n.215-34883C>T) | ClinVar dbSNP |
| 8 | g.142879080C= | CA1825498691 | CYP11B1,GML | c.347G= (p.Trp116=) n.380G= c.482G= (p.Trp161=) c.182-34883C= (n.182-34883C=) c.86G= (p.Trp29=) c.215-34883C= (n.215-34883C=) | dbSNP |