Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_014887.3
p.S99*
c.296C>G
NM_014887.3
p.S99*
c.296C>A
NM_014887.3
p.G213D
c.638G>A
NM_014887.3
p.G452D
c.1355G>A
NM_014887.3
p.K25N
c.75A>T
NM_014887.3
p.K25N
c.75A>C
NM_014887.3
p.E31*
c.91G>T
NM_014887.3
p.L78L
c.234G>A
NM_014887.3
p.D114N
c.340G>A
NM_014887.3
p.Y117C
c.350A>G
NM_014887.3
p.P126P
c.378C>A
NM_014887.3
p.R136H
c.407G>A