Papers
RefSeq ID
Protein change
DNA change
1–12 of 188 variants
NM_001042472.3
p.R352*
c.1054C>T
NM_001042472.3
p.R65*
c.193C>T
NM_001042472.3
p.W159*
c.477G>A
NM_001042472.3
p.W159*
c.476G>A
NM_001042472.3
p.R186P
c.557G>C
NM_001042472.3
p.T202I
c.605C>T
NM_001042472.3
p.R262*
c.784C>T
NM_001042472.3
p.R355*
c.1063C>T
NM_001042472.3
p.K377*
c.1129A>T
NM_001042472.3
p.T253R
c.758C>G
NM_001042472.3
p.H372Q
c.1116C>G
NM_001042472.3
p.R107delFs
c.319delT