Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_016588.3
p.D32N
c.94G>A
NM_016588.3
p.M1K
c.2T>A
NM_016588.3
p.A19Splc
c.56-638T>G
NM_016588.3
p.A28S
c.82G>T
NM_016588.3
p.P53T
c.157C>A
NM_016588.3
p.G55A
c.164G>C
NM_016588.3
p.T67A
c.199A>G
NM_016588.3
p.T67insFs
c.199_200insGA
NM_016588.3
p.T67T
c.201A>G
NM_016588.3
p.Y68C
c.203A>G
NM_016588.3
p.D82N
c.244G>A
NM_016588.3
p.Q84*
c.250C>T