Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_001393611.1
p.R66K
c.197G>A
NM_001393611.1
p.R26insFs
c.77dupG
NM_001393611.1
p.R26fs
c.76_77fs
NM_001393611.1
p.Y28fs
c.82_83fs
NM_001393611.1
p.A41V
c.122C>T
NM_001393611.1
p.G45G
c.135C>T
NM_001393611.1
p.A47G
c.140C>G
NM_001393611.1
p.C53Y
c.158G>A
NM_001393611.1
p.R59W
c.175C>T
NM_001393611.1
p.A75A
c.225C>T
NM_001393611.1
p.C76_A77insG
c.226_230ins3
NM_001393611.1
p.N101K
c.303C>A