Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_033261.3
p.W144*
c.431G>A
NM_033261.3
p.W144*
c.432G>A
NM_033261.3
p.R52Q
c.155G>A
NM_033261.3
p.L96fs
c.286_287fs
NM_033261.3
p.E121E
c.363G>A
NM_033261.3
p.*228C
c.684A>T
NM_033261.3
p.*228C
c.684A>C
NM_033261.3
p.P89fs
c.265_266fs
NM_033261.3
p.P89delFs
c.266delG
NM_033261.3
p.D100H
c.298G>C
NM_033261.3
p.Q109H
c.327G>T
NM_033261.3
p.Q109H
c.327G>C