| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112233200A>G | CA16042731 | PTS | c.281A>G (p.Asp94Gly) c.77A>G (p.Asp26Gly) c.*15A>G (n.*15A>G) n.455A>G n.322A>G c.*90A>G (n.*90A>G) n.232A>G c.242A>G (p.Asp81Gly) | ClinVar dbSNP |
| 11 | g.112233200A= | CA2000619818 | PTS | c.281A= (p.Asp94=) c.77A= (p.Asp26=) c.*15A= (n.*15A=) n.455A= n.322A= c.*90A= (n.*90A=) n.232A= c.242A= (p.Asp81=) | dbSNP |