Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_052920.2
p.R50W
c.148C>T
NM_052920.2
p.P64P
c.192C>A
NM_052920.2
p.H5Y
c.13C>T
NM_052920.2
p.R7C
c.19C>T
NM_052920.2
p.D11H
c.31G>C
NM_052920.2
p.G15C
c.43G>T
NM_052920.2
p.W16*
c.47G>A
NM_052920.2
p.W16*
c.48G>A
NM_052920.2
p.V23I
c.67G>A
NM_052920.2
p.G25R
c.73G>A
NM_052920.2
p.G25R
c.73G>C
NM_052920.2
p.G38R
c.112G>A