Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_016824.5
p.G367D
c.1100G>A
NM_016824.5
p.E22Q
c.64G>C
NM_016824.5
p.N332S
c.995A>G
NM_016824.5
p.N380K
c.1140C>A
NM_016824.5
p.N380K
c.1140C>G
NM_016824.5
p.E659Q
c.1975G>C
NM_016824.5
p.K699delFs
c.2095delA
NM_016824.5
p.E22K
c.64G>A
NM_016824.5
p.E22G
c.65A>G
NM_016824.5
p.R57*
c.169C>T
NM_016824.5
p.T437insFs
c.1309dupA
NM_016824.5
p.R571H
c.1712G>A