| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306785G>A | CA257158 | MPZ | c.367+4C>T (n.367+4C>T) c.371C>T (p.Thr124Met) c.-218C>T (n.-218C>T) n.434C>T c.111+4C>T c.401C>T (p.Thr134Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.161306785G>T | CA123809 | MPZ | c.367+4C>A (n.367+4C>A) c.371C>A (p.Thr124Lys) c.-218C>A (n.-218C>A) n.434C>A c.111+4C>A c.401C>A (p.Thr134Lys) | ClinVar dbSNP |