| 1 | g.161306819C>A | CA343905 | MPZ | c.337G>T (p.Val113Phe)
c.-252G>T (n.-252G>T)
n.400G>T
c.81G>T
c.367G>T (p.Val123Phe)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.161306819C= | CA1143538434 | MPZ | c.337G= (p.Val113=)
c.-252G= (n.-252G=)
n.400G=
c.81G=
c.367G= (p.Val123=)
| dbSNP |
