Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_033512.3
p.A21S
c.61G>T
NM_033512.3
p.E390D
c.1170G>T
NM_033512.3
p.E390D
c.1170G>C
NM_033512.3
p.T409A
c.1225A>G
NM_033512.3
p.G7S
c.19G>A
NM_033512.3
p.R12C
c.34C>T
NM_033512.3
p.R16Q
c.47G>A
NM_033512.3
p.K22*
c.64A>T
NM_033512.3
p.R24*
c.70C>T
NM_033512.3
p.V53L
c.157G>T
NM_033512.3
p.V53L
c.157G>C
NM_033512.3
p.A64T
c.190G>A