Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_004809.5
p.E36Q
c.106G>C
NM_004809.5
p.P47S
c.139C>T
NM_004809.5
p.S49fs
c.145_146fs
NM_004809.5
p.S49delFs
c.145_146delCT
NM_004809.5
p.C53S
c.157T>A
NM_004809.5
p.C53S
c.158G>C
NM_004809.5
p.E86K
c.256G>A
NM_004809.5
p.M88I
c.264G>T
NM_004809.5
p.M88I
c.264G>C
NM_004809.5
p.M88I
c.264G>A
NM_004809.5
p.R97C
c.289C>T
NM_004809.5
p.L108insFs
c.323_324insT