Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
NM_001377295.2
p.R161*
c.481C>T
NM_001377295.2
p.Y154Splc
c.461+24G>A
NM_001377295.2
p.V124M
c.370G>A
NM_001377295.2
p.D200N
c.598G>A
NM_001377295.2
p.H244fs
c.730_731fs
NM_001377295.2
p.H244_H248delFs
c.730_743del14
NM_001377295.2
p.R313*
c.937C>T
NM_001377295.2
p.L107I
c.319C>A
NM_001377295.2
p.D173G
c.518A>G
NM_001377295.2
p.T182T
c.546G>A
NM_001377295.2
p.G202E
c.605G>A
NM_001377295.2
p.E11G
c.32A>G