Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_020917.3
p.S5L
c.14C>T
NM_020917.3
p.D122Y
c.364G>T
NM_020917.3
p.R212H
c.635G>A
NM_020917.3
p.R217*
c.649C>T
NM_020917.3
p.H218Y
c.652C>T
NM_020917.3
p.K226N
c.678A>T
NM_020917.3
p.K226N
c.678A>C
NM_020917.3
p.H246P
c.737A>C
NM_020917.3
p.T251T
c.753G>T
NM_020917.3
p.G252C
c.754G>T
NM_020917.3
p.E260Q
c.778G>C
NM_020917.3
p.H268P
c.803A>C