Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_014367.4
p.R142C
c.424C>T
NM_014367.4
p.T111M
c.332C>T
NM_014367.4
p.S3N
c.8G>A
NM_014367.4
p.L4I
c.10C>A
NM_014367.4
p.L4F
c.10C>T
NM_014367.4
p.L28I
c.82C>A
NM_014367.4
p.G49R
c.145G>A
NM_014367.4
p.G49R
c.145G>C
NM_014367.4
p.R53C
c.157C>T
NM_014367.4
p.R53Splc
c.157+1G>A
NM_014367.4
p.W73*
c.218G>A
NM_014367.4
p.W73*
c.219G>A