Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_001220484.1
p.C14Y
c.41G>A
NM_001220484.1
p.R158Q
c.473G>A
NM_001220484.1
p.R216*
c.646C>T
NM_001220484.1
p.R238C
c.712C>T
NM_001220484.1
p.Y16Y
c.48T>C
NM_001220484.1
p.R22*
c.64C>T
NM_001220484.1
p.W25*
c.74G>A
NM_001220484.1
p.W25*
c.75G>A
NM_001220484.1
p.N30Y
c.88A>T
NM_001220484.1
p.F51del1
c.151_153delGAA
NM_001220484.1
p.S53*
c.158C>G
NM_001220484.1
p.S53*
c.158C>A