Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_003799.3
p.E143del1
c.427_428delGAA
NM_003799.3
p.C356Y
c.1067G>A
NM_003799.3
p.M1insFs
c.2dupT
NM_003799.3
p.Y10H
c.28T>C
NM_003799.3
p.Y10*
c.30T>G
NM_003799.3
p.S21S
c.63A>T
NM_003799.3
p.N23K
c.69T>A
NM_003799.3
p.E25K
c.73G>A
NM_003799.3
p.S28C
c.83C>G
NM_003799.3
p.G40A
c.119G>C
NM_003799.3
p.I55V
c.163A>G
NM_003799.3
p.E61A
c.182A>C