Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_133462.4
p.S495F
c.1484C>T
NM_133462.4
p.S697G
c.2089A>G
NM_133462.4
p.R115Q
c.344G>A
NM_133462.4
p.S172F
c.515C>T
NM_133462.4
p.E437G
c.1310A>G
NM_133462.4
p.R3W
c.7C>T
NM_133462.4
p.H30L
c.89A>T
NM_133462.4
p.G44V
c.131G>T
NM_133462.4
p.R54K
c.161G>A
NM_133462.4
p.R54Splc
c.162-1G>T
NM_133462.4
p.F67F
c.201C>T
NM_133462.4
p.S69F
c.206C>T