Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_001039672.3
p.E200*
c.598G>T
NM_001039672.3
p.A63fs
c.187_188fs
NM_001039672.3
p.K123Q
c.367A>C
NM_001039672.3
p.A161fs
c.481_482fs
NM_001039672.3
p.Y167*
c.501C>G
NM_001039672.3
p.Y167*
c.501C>A
NM_001039672.3
p.A193fs
c.577_578fs
NM_001039672.3
p.A193_T198delFs
c.577_592del16
NM_001039672.3
p.G232Splc
c.696-2A>C
NM_001039672.3
p.M233fs
c.697_698fs
NM_001039672.3
p.P62insFs
c.186dupT
NM_001039672.3
p.A63fs
c.187_188fs