Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_130847.3
p.R157C
c.469C>T
NM_130847.3
p.P160L
c.479C>T
NM_130847.3
p.R157H
c.470G>A
NM_130847.3
p.R363Q
c.1088G>A
NM_130847.3
p.G830Splc
c.2488+1G>T
NM_130847.3
p.Q161R
c.482A>G
NM_130847.3
p.R238C
c.712C>T
NM_130847.3
p.P368A
c.1102C>G
NM_130847.3
p.P368L
c.1103C>T
NM_130847.3
p.P418L
c.1253C>T
NM_130847.3
p.E507K
c.1519G>A
NM_130847.3
p.E579K
c.1735G>A