| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.28776944C>G | CA10586682 | PPP1CB | c.146C>G (p.Pro49Arg) c.62C>G (p.Pro21Arg) c.113C>G (p.Pro38Arg) n.260C>G | ClinVar dbSNP |
| 2 | g.28776944C= | CA1240875888 | PPP1CB | c.146C= (p.Pro49=) c.62C= (p.Pro21=) c.113C= (p.Pro38=) n.260C= | dbSNP |