Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
NM_005390.5
p.R286P
c.857G>C
NM_005390.5
p.M227V
c.679A>G
NM_005390.5
p.R26H
c.77G>A
NM_005390.5
p.Q82fs
c.244_245fs
NM_005390.5
p.P170S
c.508C>T
NM_005390.5
p.Y241N
c.721T>A
NM_005390.5
p.R286H
c.857G>A
NM_005390.5
p.E339D
c.1017G>C
NM_005390.5
p.E339D
c.1017G>T
NM_005390.5
p.V9M
c.25G>A
NM_005390.5
p.V23V
c.69G>A
NM_005390.5
p.E46G
c.137A>G