Papers
RefSeq ID
Protein change
DNA change
1–12 of 269 variants
NM_018043.7
p.E705Q
c.2113G>C
NM_018043.7
p.D842V
c.2525A>T
NM_018043.7
p.Y64insFs
c.191dupA
NM_018043.7
p.R77Q
c.230G>A
NM_018043.7
p.R219K
c.656G>A
NM_018043.7
p.E447A
c.1340A>C
NM_018043.7
p.G983R
c.2947G>A
NM_018043.7
p.G983R
c.2947G>C
NM_018043.7
p.M1I
c.3G>A
NM_018043.7
p.M1I
c.3G>C
NM_018043.7
p.E170K
c.508G>A
NM_018043.7
p.E170E
c.510G>A