Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_003213.4
p.Y429H
c.1285T>C
NM_003213.4
p.C335S
c.1003T>A
NM_003213.4
p.C335S
c.1004G>C
NM_003213.4
p.A56T
c.166G>A
NM_003213.4
p.K65E
c.193A>G
NM_003213.4
p.D70E
c.210C>A
NM_003213.4
p.D70E
c.210C>G
NM_003213.4
p.R268C
c.802C>T
NM_003213.4
p.G3D
c.8G>A
NM_003213.4
p.S18P
c.52T>C
NM_003213.4
p.S22delFs
c.64delA
NM_003213.4
p.S22fs
c.64_65fs