Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_001134665.3
p.R127*
c.379C>T
NM_001134665.3
p.G206R
c.616G>A
NM_001134665.3
p.G206R
c.616G>C
NM_001134665.3
p.E27*
c.79G>T
NM_001134665.3
p.R93*
c.277C>T
NM_001134665.3
p.R133*
c.397C>T
NM_001134665.3
p.K116N
c.348G>C
NM_001134665.3
p.K165_D166Splc
c.496-1G>A
NM_001134665.3
p.K116N
c.348G>T
NM_001134665.3
p.Q124K
c.370C>A
NM_001134665.3
p.A8insFs
c.23dupC
NM_001134665.3
p.F9fs
c.25_26fs