Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_004055.5
p.R243L
c.728G>T
NM_004055.5
p.L244P
c.731T>C
NM_004055.5
p.R289W
c.865C>T
NM_004055.5
p.K250N
c.750G>C
NM_004055.5
p.K250N
c.750G>T
NM_004055.5
p.G267S
c.799G>A
NM_004055.5
p.G376S
c.1126G>A
NM_004055.5
p.F27L
c.81C>A
NM_004055.5
p.D72N
c.214G>A
NM_004055.5
p.C81S
c.241T>A
NM_004055.5
p.C81S
c.242G>C
NM_004055.5
p.T298I
c.893C>T