Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_006568.3
p.C117Y
c.350G>A
NM_006568.3
p.R185W
c.553C>T
NM_006568.3
p.K272*
c.814A>T
NM_006568.3
p.M1insFs
c.2dupT
NM_006568.3
p.G30R
c.88G>C
NM_006568.3
p.W35Splc
c.104+1G>A
NM_006568.3
p.T81R
c.242C>G
NM_006568.3
p.T97T
c.291A>G
NM_006568.3
p.Y131C
c.392A>G
NM_006568.3
p.K159E
c.475A>G
NM_006568.3
p.E161delFs
c.482delA
NM_006568.3
p.T165P
c.493A>C