Papers
RefSeq ID
Protein change
DNA change
1–12 of 190 variants
NM_024079.5
p.T47P
c.139A>C
NM_024079.5
p.N222S
c.665A>G
NM_024079.5
p.R364*
c.1090C>T
NM_024079.5
p.R268Q
c.803G>A
NM_024079.5
p.R41*
c.121C>T
NM_024079.5
p.G275D
c.824G>A
NM_024079.5
p.A282V
c.845C>T
NM_024079.5
p.K132_V133insFs
c.396_397insA
NM_024079.5
p.T138delFs
c.413delG
NM_024079.5
p.Y32Splc
c.96-2A>G
NM_024079.5
p.P69L
c.206C>T
NM_024079.5
p.I439T
c.1316T>C