Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_005204.4
p.L128V
c.382C>G
NM_005204.4
p.K167R
c.500A>G
NM_005204.4
p.E188K
c.562G>A
NM_005204.4
p.R408H
c.1223G>A
NM_005204.4
p.R442H
c.1325G>A
NM_005204.4
p.M1T
c.2T>C
NM_005204.4
p.W72R
c.214T>A
NM_005204.4
p.W72R
c.214T>C
NM_005204.4
p.D157N
c.469G>A
NM_005204.4
p.Y194insFs
c.580_581insC
NM_005204.4
p.G200D
c.599G>A
NM_005204.4
p.E211K
c.631G>A