Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_005741.5
p.C310S
c.928T>A
NM_005741.5
p.C310S
c.929G>C
NM_005741.5
p.R646W
c.1936C>T
NM_005741.5
p.R510I
c.1529G>T
NM_005741.5
p.R529L
c.1586G>T
NM_005741.5
p.R585W
c.1753C>T
NM_005741.5
p.T632N
c.1895C>A
NM_005741.5
p.R646Q
c.1937G>A
NM_005741.5
p.P37L
c.110C>T
NM_005741.5
p.L83P
c.248T>C
NM_005741.5
p.R125I
c.374G>T
NM_005741.5
p.P144delFs
c.430delC