Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_001713.3
p.R239Q
c.716G>A
NM_001713.3
p.G199S
c.595G>A
NM_001713.3
p.Q406H
c.1218G>C
NM_001713.3
p.Q406H
c.1218G>T
NM_001713.3
p.Y160F
c.479A>T
NM_001713.3
p.E350G
c.1049A>G
NM_001713.3
p.I22M
c.66T>G
NM_001713.3
p.D26A
c.77A>C
NM_001713.3
p.A66G
c.197C>G
NM_001713.3
p.Y77F
c.230A>T
NM_001713.3
p.V90D
c.269T>A
NM_001713.3
p.D105N
c.313G>A