Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_006745.5
p.Y244C
c.731A>G
NM_006745.5
p.H173Q
c.519T>A
NM_006745.5
p.H173Q
c.519T>G
NM_006745.5
p.G115R
c.343G>A
NM_006745.5
p.G115R
c.343G>C
NM_006745.5
p.G202E
c.605G>A
NM_006745.5
p.E18V
c.53A>T
NM_006745.5
p.N27T
c.80A>C
NM_006745.5
p.Q30*
c.88C>T
NM_006745.5
p.A36A
c.108T>C
NM_006745.5
p.A60D
c.179C>A
NM_006745.5
p.K79insFs
c.235dupA