| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.28793938G>A | CA10586686 | PPP1CB,SPDYA | c.820G>A (p.Glu274Lys) c.*780G>A (n.*780G>A) c.736G>A (p.Glu246Lys) c.*867G>A (n.*867G>A) c.943G>A (p.Glu315Lys) c.787G>A (p.Glu263Lys) n.703G>A n.647G>A | ClinVar dbSNP |
| 2 | g.28793938G= | CA1240882553 | PPP1CB,SPDYA | c.820G= (p.Glu274=) c.*780G= (n.*780G=) c.736G= (p.Glu246=) c.*867G= (n.*867G=) c.943G= (p.Glu315=) c.787G= (p.Glu263=) n.703G= n.647G= | dbSNP |