Papers
RefSeq ID
Protein change
DNA change
1–12 of 271 variants
NM_001085.5
p.A9T
c.25G>A
NM_001085.5
p.I308T
c.923T>C
NM_001085.5
p.Y322*
c.966T>A
NM_001085.5
p.Y322*
c.966T>G
NM_001085.5
p.Y322delFs
c.966delT
NM_001085.5
p.A15T
c.43G>A
NM_001085.5
p.P252A
c.754C>G
NM_001085.5
p.R3S
c.9A>T
NM_001085.5
p.L5F
c.15A>T
NM_001085.5
p.E112K
c.334G>A
NM_001085.5
p.M414V
c.1240A>G
NM_001085.5
p.K416delFs
c.1246_1247delAA