Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_006765.4
p.S331*
c.992C>A
NM_006765.4
p.S331*
c.992C>G
NM_006765.4
p.Q55*
c.163C>T
NM_006765.4
p.A13V
c.38C>T
NM_006765.4
p.N263insFs
c.787_788insC
NM_006765.4
p.F66V
c.196T>G
NM_006765.4
p.R67*
c.199C>T
NM_006765.4
p.R74fs
c.220_221fs
NM_006765.4
p.R74delFs
c.222delA
NM_006765.4
p.R117C
c.349C>T
NM_006765.4
p.M247V
c.739A>G
NM_006765.4
p.F277delFs
c.831delT