Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_001033047.3
p.Q159H
c.477G>C
NM_001033047.3
p.Q159H
c.477G>T
NM_001033047.3
p.I234V
c.700A>G
NM_001033047.3
p.Y238*
c.714C>A
NM_001033047.3
p.Y238*
c.714C>G
NM_001184690.2
p.C259insFs
c.777dupT
NM_001184690.2
p.K260*
c.778A>T
NM_001033047.3
p.M122T
c.365T>C
NM_001033047.3
p.V259insFs
c.777dupT
NM_001033047.3
p.T346N
c.1037C>A
NM_001033047.3
p.V8M
c.22G>A
NM_001033047.3
p.A19G
c.56C>G