| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306165dup | CA343908 | MPZ | c.507dup (p.Met170TyrfsTer?) c.588dup (p.Met197TyrfsTer?) c.-1dup (p.Met1TyrfsTer?) n.651dup n.48dup n.26dup c.251dup c.618dup (p.Met207TyrfsTer23) | ClinVar dbSNP |
| 1 | g.161306165A= | CA1143538426 | MPZ | c.507T= (p.Ala169=) c.588T= (p.Ala196=) c.-1T= (n.-1T=) n.651T= n.48T= n.26T= c.251T= c.618T= (p.Ala206=) | dbSNP dbSNP |