Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_031916.5
p.Y45*
c.135T>A
NM_031916.5
p.Y45*
c.135T>G
NM_031916.5
p.V92M
c.274G>A
NM_031916.5
p.P156L
c.467C>T
NM_031916.5
p.A30insFs
c.88_89insG
NM_031916.5
p.R32L
c.95G>T
NM_031916.5
p.T95I
c.284C>T
NM_031916.5
p.S209S
c.627A>T
NM_031916.5
p.P2S
c.4C>T
NM_031916.5
p.A10V
c.29C>T
NM_031916.5
p.Q12delFs
c.35delA
NM_031916.5
p.H14N
c.40C>A