Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_018838.5
p.R60*
c.178C>T
NM_018838.5
p.W75*
c.224G>A
NM_018838.5
p.W75*
c.225G>A
NM_018838.5
p.E2*
c.4G>T
NM_018838.5
p.F28fs
c.82_83fs
NM_018838.5
p.F28insFs
c.83dupT
NM_018838.5
p.F28delFs
c.83delA
NM_018838.5
p.R29fs
c.85_86fs
NM_018838.5
p.R29K
c.86G>A
NM_018838.5
p.R29K
c.86G>A
NM_018838.5
p.E85*
c.253G>T
NM_018838.5
p.K132fs
c.394_395fs