| 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 |
