Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_018292.5
p.G133V
c.398G>T
NM_018292.5
p.G117E
c.350G>A
NM_018292.5
p.A11V
c.32C>T
NM_018292.5
p.T196N
c.587C>A
NM_018292.5
p.R197K
c.590G>A
NM_018292.5
p.P199H
c.596C>A
NM_018292.5
p.V229G
c.686T>G
NM_018292.5
p.Y100*
c.300T>A
NM_018292.5
p.Y185*
c.555C>A
NM_018292.5
p.Y185*
c.555C>G
NM_018292.5
p.G204R
c.610G>A
NM_018292.5
p.G204R
c.610G>C