| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.28793872G>T | CA10586685 | PPP1CB,SPDYA | c.754G>T (p.Asp252Tyr) c.*714G>T (n.*714G>T) c.670G>T (p.Asp224Tyr) c.*801G>T (n.*801G>T) c.877G>T (p.Asp293Tyr) c.721G>T (p.Asp241Tyr) n.637G>T n.581G>T | ClinVar dbSNP |
| 2 | g.28793872G= | CA1240882501 | PPP1CB,SPDYA | c.754G= (p.Asp252=) c.*714G= (n.*714G=) c.670G= (p.Asp224=) c.*801G= (n.*801G=) c.877G= (p.Asp293=) c.721G= (p.Asp241=) n.637G= n.581G= | dbSNP |