| 1 | g.161306810T>A | CA343349233 | MPZ | c.346A>T (p.Asn116Tyr)
c.-243A>T (n.-243A>T)
n.409A>T
c.90A>T
c.376A>T (p.Asn126Tyr)
| ClinVar dbSNP |
| 1 | g.161306810T>G | CA351446 | MPZ | c.346A>C (p.Asn116His)
c.-243A>C (n.-243A>C)
n.409A>C
c.90A>C
c.376A>C (p.Asn126His)
| ClinVar dbSNP |
