Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001012418.5
p.T64M
c.191C>T
NM_001012418.5
p.A78S
c.232G>T
NM_001012418.5
p.R191H
c.572G>A
NM_001012418.5
p.C318Y
c.953G>A
NM_001012418.5
p.R349*
c.1045C>T
NM_001012418.5
p.L2*
c.5T>A
NM_001012418.5
p.V4A
c.11T>C
NM_001012418.5
p.T12M
c.35C>T
NM_001012418.5
p.C13insFs
c.37_38ins4
NM_001012418.5
p.C13S
c.38G>C
NM_001012418.5
p.L19insFs
c.56_57ins13
NM_001012418.5
p.A23A
c.69C>T