Papers
RefSeq ID
Protein change
DNA change
1–12 of 193 variants
NM_004418.4
p.G134D
c.401G>A
NM_004418.4
p.C143Y
c.428G>A
NM_004418.4
p.A124V
c.371C>T
NM_004418.4
p.W51*
c.153G>A
NM_004418.4
p.G130Splc
c.389-1G>A
NM_004418.4
p.G131D
c.392G>A
NM_004418.4
p.G134A
c.401G>C
NM_004418.4
p.G137D
c.410G>A
NM_004418.4
p.C143W
c.429C>G
NM_004418.4
p.P152S
c.454C>T
NM_004418.4
p.T158I
c.473C>T
NM_004418.4
p.C257S
c.769T>A