Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_053278.3
p.D328A
c.983A>C
NM_053278.3
p.R31W
c.91C>T
NM_053278.3
p.P136T
c.406C>A
NM_053278.3
p.K250delFs
c.748_749delAA
NM_053278.3
p.M283I
c.849G>A
NM_053278.3
p.M283I
c.849G>C
NM_053278.3
p.M283I
c.849G>T
NM_053278.3
p.T2P
c.4A>C
NM_053278.3
p.I22I
c.66T>A
NM_053278.3
p.P25S
c.73C>T
NM_053278.3
p.R31L
c.92G>T
NM_053278.3
p.V32insFs
c.94_95insTA