Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_001033046.4
p.D43N
c.127G>A
NM_001033046.4
p.Y2*
c.6C>G
NM_001033046.4
p.Y2*
c.6C>A
NM_001033046.4
p.D43N
c.127G>A
NM_001033046.4
p.L49F
c.145C>T
NM_001033046.4
p.V52I
c.154G>A
NM_001033046.4
p.L90P
c.269T>C
NM_001033046.4
p.D109insFs
c.327dupT
NM_001033046.4
p.S23delFs
c.67delA
NM_001033046.4
p.S25A
c.73T>G
NM_001033046.4
p.S25_L26delFs
c.75_76delGG
NM_001033046.4
p.L35L
c.103C>T