Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_002761.3
p.R34S
c.102G>T
NM_002761.3
p.R34S
c.102G>C
NM_002761.3
p.Q18Q
c.54G>A
NM_002761.3
p.C40Y
c.119G>A
NM_002761.3
p.R47R
c.139C>A
NM_002761.3
p.S22N
c.65G>A
NM_002761.3
p.R17C
c.49C>T
NM_002761.3
p.R8H
c.23G>A
NM_002761.3
p.S22S
c.66T>C
NM_002761.3
p.Q31H
c.93G>T
NM_002761.3
p.Q31H
c.93G>C
NM_002761.3
p.R47Q
c.140G>A