Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_016929.5
p.C32*
c.96T>A
NM_016929.5
p.K21_A22Splc
c.63+1G>A
NM_016929.5
p.L75P
c.224T>C
NM_016929.5
p.A114E
c.341C>A
NM_001114086.2
p.H32Q
c.96T>A
NM_016929.5
p.R12delFs
c.35delC
NM_016929.5
p.K100Splc
c.299+1G>A
NM_016929.5
p.R224C
c.670C>T
NM_016929.5
p.G23R
c.67G>A
NM_016929.5
p.D25N
c.73G>A
NM_016929.5
p.D25insFs
c.74dupA
NM_016929.5
p.C32S
c.94T>A