| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161306110G>A | CA123800 | MPZ | c.562C>T (p.Gln188Ter) c.643C>T (p.Gln215Ter) c.55C>T (p.Gln19Ter) n.706C>T n.103C>T n.81C>T c.306C>T c.673C>T (p.Gln225Ter) | ClinVar dbSNP |
| 1 | g.161306110G= | CA1141581143 | MPZ | c.562C= (p.Gln188=) c.643C= (p.Gln215=) c.55C= (p.Gln19=) n.706C= n.103C= n.81C= c.306C= c.673C= (p.Gln225=) | dbSNP |