| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161307308T>A | CA123807 | MPZ | c.184A>T (p.Ile62Phe) c.-405A>T (n.-405A>T) n.247A>T c.214A>T (p.Ile72Phe) | ClinVar dbSNP |
| 1 | g.161307308T>C | CA343350707 | MPZ | c.184A>G (p.Ile62Val) c.-405A>G (n.-405A>G) n.247A>G c.214A>G (p.Ile72Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161307308T= | CA1141581162 | MPZ | c.184A= (p.Ile62=) c.-405A= (n.-405A=) n.247A= c.214A= (p.Ile72=) | dbSNP |