Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_016577.4
p.R168*
c.502C>T
NM_016577.4
p.G25W
c.73G>T
NM_016577.4
p.Y56C
c.167A>G
NM_016577.4
p.Q72L
c.215A>T
NM_016577.4
p.N97Splc
c.290-17T>C
NM_016577.4
p.N97K
c.291T>G
NM_016577.4
p.N97K
c.291T>A
NM_016577.4
p.I108L
c.322A>C
NM_016577.4
p.V111I
c.331G>A
NM_016577.4
p.T128M
c.383C>T
NM_016577.4
p.A131V
c.392C>T
NM_016577.4
p.E147K
c.439G>A