Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
NM_001297719.2
p.S13T
c.38G>C
NM_001297719.2
p.D22N
c.64G>A
NM_001297719.2
p.R37H
c.110G>A
NM_001297719.2
p.R85Q
c.254G>A
NM_001297719.2
p.A104T
c.310G>A
NM_001297719.2
p.D110Y
c.328G>T
NM_001297719.2
p.D145N
c.433G>A
NM_001297719.2
p.R238Q
c.713G>A
NM_001297719.2
p.R244Q
c.731G>A
NM_001297719.2
p.S459F
c.1376C>T
NM_001297719.2
p.P479insFs
c.1437dupC
NM_001297719.2
p.F619Y
c.1856T>A