| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306866T>A | CA257172 | MPZ | c.290A>T (p.Glu97Val) c.-299A>T (n.-299A>T) n.353A>T c.34A>T c.320A>T (p.Glu107Val) | ClinVar dbSNP |
| 1 | g.161306866T= | CA1141581145 | MPZ | c.290A= (p.Glu97=) c.-299A= (n.-299A=) n.353A= c.34A= c.320A= (p.Glu107=) | dbSNP |