Papers
RefSeq ID
Protein change
DNA change
1–12 of 203 variants
NM_001320.7
p.R86C
c.256C>T
NM_001320.7
p.H165R
c.494A>G
NM_001320.7
p.D32N
c.94G>A
NM_001320.7
p.R111P
c.332G>C
NM_001320.7
p.R178insFs
c.533_534insGT
NM_001320.7
p.L36insFs
c.108dupT
NM_001320.7
p.R47*
c.139C>T
NM_001320.7
p.C137F
c.410G>T
NM_001320.7
p.P179fs
c.535_536fs
NM_001320.7
p.L187R
c.560T>G
NM_001320.7
p.E5*
c.13G>T
NM_001320.7
p.D59Splc
c.175+2T>G