Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_016032.4
p.R148W
c.442C>T
NM_016032.4
p.P150S
c.448C>T
NM_016032.4
p.R96W
c.286C>T
NM_016032.4
p.R298*
c.892C>T
NM_016032.4
p.E56Splc
c.167+5G>C
NM_016032.4
p.R58_Y59insFs
c.172_175dup4
NM_016032.4
p.C49R
c.145T>C
NM_016032.4
p.D259_I260Splc
c.777+1G>A
NM_016032.4
p.T11fs
c.31_32fs
NM_016032.4
p.R28H
c.83G>A
NM_016032.4
p.Y59fs
c.175_176fs
NM_016032.4
p.Y59fs
c.175_176fs