Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_018163.3
p.A227A
c.681G>A
NM_018163.3
p.V204L
c.610G>C
NM_018163.3
p.A285A
c.855C>T
NM_018163.3
p.E117A
c.350A>C
NM_018163.3
p.A292P
c.874G>C
NM_018163.3
p.E300fs
c.898_899fs
NM_018163.3
p.E300delFs
c.898delC
NM_018163.3
p.A50Splc
c.148+1G>A
NM_018163.3
p.A50Splc
c.149-1G>T
NM_018163.3
p.Q55*
c.163C>T
NM_018163.3
p.A71insFs
c.212_213dupCA
NM_018163.3
p.K74N
c.222G>T