Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_016138.5
p.V141E
c.422T>A
NM_016138.5
p.L111P
c.332T>C
NM_016138.5
p.T103M
c.308C>T
NM_016138.5
p.R107W
c.319C>T
NM_016138.5
p.M1I
c.3G>T
NM_016138.5
p.R54Q
c.161G>A
NM_016138.5
p.I66N
c.197T>A
NM_016138.5
p.Y149C
c.446A>G
NM_016138.5
p.K200Fs
c.599_600delinsTAATGCATCFs
NM_016138.5
p.K200fs
c.598_599fs
NM_016138.5
p.L156Q
c.467T>A
NM_016138.5
p.M1V
c.1A>G