| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161305953C>A | CA343909 | MPZ | c.589G>T (p.Asp197Tyr) c.670G>T (p.Asp224Tyr) c.82G>T (p.Asp28Tyr) n.733G>T n.260G>T n.108G>T c.333G>T c.675+155G>T (n.675+155G>T) | ClinVar dbSNP |
| 1 | g.161305953C= | CA1143538423 | MPZ | c.589G= (p.Asp197=) c.670G= (p.Asp224=) c.82G= (p.Asp28=) n.733G= n.260G= n.108G= c.333G= c.675+155G= (n.675+155G=) | dbSNP |