Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_002833.4
p.C515S
c.1543T>A
NM_002833.4
p.C515S
c.1544G>C
NM_002833.4
p.D470A
c.1409A>C
NM_002833.4
p.Y238Y
c.714C>T
NM_002833.4
p.D335A
c.1004A>C
NM_002833.4
p.P17A
c.49C>G
NM_002833.4
p.A47G
c.140C>G
NM_002833.4
p.K55M
c.164A>T
NM_002833.4
p.D57N
c.169G>A
NM_002833.4
p.R60C
c.178C>T
NM_002833.4
p.R60H
c.179G>A
NM_002833.4
p.E70A
c.209A>C