Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001282788.3
p.S228L
c.683C>T
NM_001282788.3
p.E242K
c.724G>A
NM_001282788.3
p.E56K
c.166G>A
NM_001282788.3
p.N31D
c.91A>G
NM_001282788.3
p.A50V
c.149C>T
NM_001282788.3
p.V93I
c.277G>A
NM_001282788.3
p.W132*
c.395G>A
NM_001282788.3
p.W132*
c.396G>A
NM_001282788.3
p.A138insFs
c.413dupC
NM_001282788.3
p.A138fs
c.412_413fs
NM_001282788.3
p.L147L
c.441C>A
NM_001282788.3
p.P180S
c.538C>T