Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_001171251.3
p.T126P
c.376A>C
NM_001171251.3
p.E168delFs
c.502delG
NM_001171251.3
p.E141delFs
c.421delG
NM_001171251.3
p.R318Q
c.953G>A
NM_001171251.3
p.T391P
c.1171A>C
NM_001171251.3
p.S646G
c.1936A>G
NM_001171251.3
p.R30W
c.88C>T
NM_001171251.3
p.R41H
c.122G>A
NM_001171251.3
p.P49S
c.145C>T
NM_001171251.3
p.Q50L
c.149A>T
NM_001171251.3
p.N113S
c.338A>G
NM_001171251.3
p.T120A
c.358A>G