Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_007136.4
p.D253A
c.758A>C
NM_007136.4
p.Y245*
c.735T>G
NM_007136.4
p.Y245*
c.735T>A
NM_007136.4
p.R201H
c.602G>A
NM_007136.4
p.E130K
c.388G>A
NM_007136.4
p.M1K
c.2T>A
NM_007136.4
p.D6N
c.16G>A
NM_007136.4
p.G13C
c.37G>T
NM_007136.4
p.G13D
c.38G>A
NM_007136.4
p.H15_S16insFs
c.45_46insT
NM_007136.4
p.S24A
c.70T>G
NM_007136.4
p.H30Y
c.88C>T