Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_001414.4
p.N208Y
c.622A>T
NM_001414.4
p.V183F
c.547G>T
NM_001414.4
p.Y275C
c.824A>G
NM_001414.4
p.E198K
c.592G>A
NM_001414.4
p.K91E
c.271A>G
NM_001414.4
p.P278R
c.833C>G
NM_001414.4
p.G39Splc
c.115+1G>A
NM_001414.4
p.N213S
c.638A>G
NM_001414.4
p.L49R
c.146T>G
NM_001414.4
p.L73R
c.218T>G
NM_001414.4
p.A79V
c.236C>T
NM_001414.4
p.K110E
c.328A>G