| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306414C>G | CA123798 | MPZ | c.418G>C (p.Gly140Arg) c.499G>C (p.Gly167Arg) c.-90G>C (n.-90G>C) n.562G>C c.162G>C c.529G>C (p.Gly177Arg) | ClinVar dbSNP |
| 1 | g.161306414C>T | CA347426 | MPZ | c.418G>A (p.Gly140Arg) c.499G>A (p.Gly167Arg) c.-90G>A (n.-90G>A) n.562G>A c.162G>A c.529G>A (p.Gly177Arg) | ClinVar dbSNP |