Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_006607.3
p.H185delFs
c.554_555delAT
NM_006607.3
p.H185fs
c.553_554fs
NM_006607.3
p.R134H
c.401G>A
NM_006607.3
p.E10K
c.28G>A
NM_006607.3
p.R17C
c.49C>T
NM_006607.3
p.L26L
c.78G>A
NM_006607.3
p.K33R
c.98A>G
NM_006607.3
p.A34fs
c.100_101fs
NM_006607.3
p.R44*
c.130C>T
NM_006607.3
p.R44P
c.131G>C
NM_006607.3
p.K48R
c.143A>G
NM_006607.3
p.K62delFs
c.185delA