Papers
RefSeq ID
Protein change
DNA change
1–12 of 173 variants
NM_001018055.3
p.R81*
c.241C>T
NM_001018055.3
p.Q7*
c.19C>T
NM_001018055.3
p.R82H
c.245G>A
NM_001018055.3
p.R89*
c.265C>T
NM_001018055.3
p.Q10*
c.28C>T
NM_001018055.3
p.W120*
c.360G>A
NM_001018055.3
p.H124Q
c.372T>A
NM_001018055.3
p.H124Q
c.372T>G
NM_001018055.3
p.Q4*
c.10C>T
NM_001018055.3
p.I74V
c.220A>G
NM_001018055.3
p.W120*
c.359G>A
NM_001018055.3
p.Q174*
c.520C>T