Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_001159944.3
p.V182I
c.544G>A
NM_001159944.3
p.R306*
c.916C>T
NM_001159944.3
p.L35L
c.105G>C
NM_001159944.3
p.E36*
c.106G>T
NM_001159944.3
p.R56H
c.167G>A
NM_001159944.3
p.S73F
c.218C>T
NM_001159944.3
p.E99*
c.295G>T
NM_001159944.3
p.G115S
c.343G>A
NM_001159944.3
p.P135P
c.405C>T
NM_001159944.3
p.E164Q
c.490G>C
NM_001159944.3
p.V182delFs
c.544_545delGT
NM_001159944.3
p.R191Q
c.572G>A