Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_003008.3
p.R292C
c.874C>T
NM_003008.3
p.A93V
c.278C>T
NM_003008.3
p.H279Y
c.835C>T
NM_003008.3
p.P453H
c.1358C>A
NM_003008.3
p.A20G
c.59C>G
NM_003008.3
p.Q31H
c.93A>T
NM_003008.3
p.D53fs
c.157_158fs
NM_003008.3
p.D53delFs
c.158delA
NM_003008.3
p.A93T
c.277G>A
NM_003008.3
p.H99N
c.295C>A
NM_003008.3
p.H130D
c.388C>G
NM_003008.3
p.P142T
c.424C>A