| 1 | g.161306809T>C | CA343914 | MPZ | c.347A>G (p.Asn116Ser)
c.-242A>G (n.-242A>G)
n.410A>G
c.91A>G
c.377A>G (p.Asn126Ser)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.161306809T= | CA1143538431 | MPZ | c.347A= (p.Asn116=)
c.-242A= (n.-242A=)
n.410A=
c.91A=
c.377A= (p.Asn126=)
| dbSNP |
