Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_014433.3
p.T42M
c.125C>T
NM_014433.3
p.N71Y
c.211A>T
NM_014433.3
p.R84C
c.250C>T
NM_014433.3
p.G126delFs
c.378delC
NM_014433.3
p.N127fs
c.379_380fs
NM_014433.3
p.G141Splc
c.421+9133G>A
NM_014433.3
p.G141V
c.422G>T
NM_014433.3
p.E163G
c.488A>G
NM_014433.3
p.C178F
c.533G>T
NM_014433.3
p.L199P
c.596T>C
NM_014433.3
p.R207C
c.619C>T
NM_014433.3
p.R207H
c.620G>A