Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_017734.5
p.N169H
c.505A>C
NM_017734.5
p.D232N
c.694G>A
NM_017734.5
p.T276M
c.827C>T
NM_017734.5
p.E450D
c.1350G>C
NM_017734.5
p.E450D
c.1350G>T
NM_017734.5
p.E60Q
c.178G>C
NM_017734.5
p.Q70K
c.208C>A
NM_017734.5
p.H73Y
c.217C>T
NM_017734.5
p.E86K
c.256G>A
NM_017734.5
p.L146V
c.436C>G
NM_017734.5
p.A175V
c.524C>T
NM_017734.5
p.V180F
c.538G>T