Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_001010851.3
p.E359K
c.1075G>A
NM_001010851.3
p.E17D
c.51A>C
NM_001010851.3
p.E17D
c.51A>T
NM_001010851.3
p.A32P
c.94G>C
NM_001010851.3
p.E66G
c.197A>G
NM_001010851.3
p.N79insFs
c.236dupA
NM_001010851.3
p.A77A
c.231A>T
NM_001010851.3
p.Y131*
c.393T>A
NM_001010851.3
p.Y131*
c.393T>G
NM_001010851.3
p.S141N
c.422G>A
NM_001010851.3
p.N215D
c.643A>G
NM_001010851.3
p.K227M
c.680A>T