Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_016559.3
p.Q29*
c.85C>T
NM_016559.3
p.T277I
c.830C>T
NM_016559.3
p.R533*
c.1597C>T
NM_016559.3
p.Y2insFs
c.4dupT
NM_016559.3
p.G4insFs
c.10dupG
NM_016559.3
p.G13*
c.37G>T
NM_016559.3
p.S19insFs
c.57dupT
NM_016559.3
p.E24K
c.70G>A
NM_016559.3
p.D39N
c.115G>A
NM_016559.3
p.S65S
c.195A>T
NM_016559.3
p.Q66H
c.198G>T
NM_016559.3
p.Q66H
c.198G>C