Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_018004.3
p.R267*
c.799C>T
NM_018004.3
p.M1insFs
c.1dupA
NM_018004.3
p.M1insFs
c.3dupG
NM_018004.3
p.L9P
c.26T>C
NM_018004.3
p.I16ins2
c.46_47ins6
NM_018004.3
p.G18ins2
c.52_53ins6
NM_001363876.2
p.R52*
c.154C>T
NM_018004.3
p.R36*
c.106C>T
NM_018004.3
p.G41C
c.121G>T
NM_018004.3
p.L45L
c.135A>G
NM_018004.3
p.R48*
c.142C>T
NM_018004.3
p.G67E
c.200G>A