| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306870T>C | CA257142 | MPZ | c.286A>G (p.Lys96Glu) c.-303A>G (n.-303A>G) n.349A>G c.30A>G c.316A>G (p.Lys106Glu) | ClinVar dbSNP |
| 1 | g.161306870T= | CA1141581146 | MPZ | c.286A= (p.Lys96=) c.-303A= (n.-303A=) n.349A= c.30A= c.316A= (p.Lys106=) | dbSNP |