Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001114938.3
p.P353L
c.1058C>T
NM_001114938.3
p.S580N
c.1739G>A
NM_001114938.3
p.P344L
c.1031C>T
NM_001114938.3
p.Q62*
c.184C>T
NM_001114938.3
p.Q72*
c.214C>T
NM_001114938.3
p.P321L
c.962C>T
NM_001114938.3
p.S575F
c.1724C>T
NM_001114938.3
p.T15delFs
c.43delT
NM_001114938.3
p.G45E
c.134G>A
NM_001114938.3
p.R56Q
c.167G>A
NM_001114938.3
p.A57V
c.170C>T
NM_001114938.3
p.A58_V59Splc
c.174+7G>A