| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306850del | CA343903 | MPZ | c.306del (p.Asp104ThrfsTer14) c.-283del (n.-283del) n.369del c.50del c.336del (p.Asp114ThrfsTer14) | ClinVar dbSNP |
| 1 | g.161306850T= | CA1143538436 | MPZ | c.306A= (p.Val102=) c.-283A= (n.-283A=) n.369A= c.50A= c.336A= (p.Val112=) | dbSNP |