| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161307304G>C | CA123796 | MPZ | c.188C>G (p.Ser63Cys) c.-401C>G (n.-401C>G) n.251C>G c.218C>G (p.Ser73Cys) | ClinVar dbSNP |
| 1 | g.161307304G>A | CA257156 | MPZ | c.188C>T (p.Ser63Phe) c.-401C>T (n.-401C>T) n.251C>T c.218C>T (p.Ser73Phe) | ClinVar dbSNP |
| 1 | g.161307304G= | CA1141581157 | MPZ | c.188C= (p.Ser63=) c.-401C= (n.-401C=) n.251C= c.218C= (p.Ser73=) | dbSNP |