| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.28776964G>C | CA346581171 | PPP1CB | c.166G>C (p.Ala56Pro) c.82G>C (p.Ala28Pro) c.133G>C (p.Ala45Pro) n.280G>C | ClinVar dbSNP |
| 2 | g.28776964G= | CA1240875899 | PPP1CB | c.166G= (p.Ala56=) c.82G= (p.Ala28=) c.133G= (p.Ala45=) n.280G= | dbSNP |