Papers
RefSeq ID
Protein change
DNA change
1–12 of 258 variants
NM_001909.5
p.A58V
c.173C>T
NM_001909.5
p.F229I
c.685T>A
NM_001909.5
p.W383C
c.1149G>C
NM_001909.5
p.W383C
c.1149G>T
NM_001909.5
p.S100F
c.299C>T
NM_001909.5
p.R399H
c.1196G>A
NM_001909.5
p.L199L
c.597G>A
NM_001909.5
p.Y255insFs
c.764dupA
NM_001909.5
p.Q90insFs
c.268_269insC
NM_001909.5
p.G149V
c.446G>T
NM_001909.5
p.Y255*
c.765C>G
NM_001909.5
p.Y255*
c.765C>A