| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306914T>A | CA343350035 | MPZ | c.242A>T (p.His81Leu) c.-347A>T (n.-347A>T) n.305A>T c.272A>T (p.His91Leu) | ClinVar dbSNP |
| 1 | g.161306914T>C | CA341323 | MPZ | c.242A>G (p.His81Arg) c.-347A>G (n.-347A>G) n.305A>G c.272A>G (p.His91Arg) | ClinVar dbSNP |
| 1 | g.161306914T= | CA1141581151 | MPZ | c.242A= (p.His81=) c.-347A= (n.-347A=) n.305A= c.272A= (p.His91=) | dbSNP |