Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_152548.3
p.Q144*
c.430C>T
NM_152548.3
p.R134C
c.400C>T
NM_152548.3
p.A187V
c.560C>T
NM_152548.3
p.R239Q
c.716G>A
NM_152548.3
p.Q285fs
c.853_854fs
NM_152548.3
p.Q285insFs
c.854_855insC
NM_152548.3
p.R444H
c.1331G>A
NM_152548.3
p.S11F
c.32C>T
NM_152548.3
p.G64S
c.190G>A
NM_152548.3
p.E74K
c.220G>A
NM_152548.3
p.D97Y
c.289G>T
NM_152548.3
p.H100Q
c.300T>A