Papers
RefSeq ID
Protein change
DNA change
1–12 of 246 variants
NM_019892.6
p.R378C
c.1132C>T
NM_019892.6
p.R435Q
c.1304G>A
NM_019892.6
p.R515W
c.1543C>T
NM_019892.6
p.R563H
c.1688G>A
NM_019892.6
p.R512W
c.1534C>T
NM_019892.6
p.D477N
c.1429G>A
NM_019892.6
p.R621Q
c.1862G>A
NM_019892.6
p.Q627*
c.1879C>T
NM_019892.6
p.G286R
c.856G>C
NM_019892.6
p.G286R
c.856G>A
NM_019892.6
p.V303M
c.907G>A
NM_019892.6
p.Y543*
c.1629C>G