Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_018691.4
p.G122S
c.364G>A
NM_018691.4
p.E407K
c.1219G>A
NM_018691.4
p.K28N
c.84G>T
NM_018691.4
p.K28N
c.84G>C
NM_018691.4
p.S30Fs
c.88delinsTACFs
NM_018691.4
p.D34insFs
c.100_101insGC
NM_018691.4
p.D34fs
c.100_101fs
NM_018691.4
p.V100_A101insGC
c.298_302ins6
NM_018691.4
p.E136Q
c.406G>C
NM_018691.4
p.E143Q
c.427G>C
NM_018691.4
p.N203N
c.609C>T
NM_018691.4
p.R204*
c.610C>T