Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_001080475.3
p.D246N
c.736G>A
NM_001080475.3
p.M71L
c.211A>T
NM_001080475.3
p.L178I
c.532C>A
NM_001080475.3
p.R317W
c.949C>T
NM_001080475.3
p.L637V
c.1909C>G
NM_001080475.3
p.M1V
c.1A>G
NM_001080475.3
p.M1insFs
c.1dupA
NM_001080475.3
p.A3V
c.8C>T
NM_001080475.3
p.F20C
c.59T>G
NM_001080475.3
p.S21N
c.62G>A
NM_001080475.3
p.A34T
c.100G>A
NM_001080475.3
p.G38W
c.112G>T