| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306848C>T | CA257164 | MPZ | c.308G>A (p.Gly103Glu) c.-281G>A (n.-281G>A) n.371G>A c.52G>A c.338G>A (p.Gly113Glu) | ClinVar dbSNP |
| 1 | g.161306848C= | CA1141581165 | MPZ | c.308G= (p.Gly103=) c.-281G= (n.-281G=) n.371G= c.52G= c.338G= (p.Gly113=) | dbSNP |