Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001080472.4
p.G232R
c.694G>A
NM_001080472.4
p.E2*
c.4G>T
NM_001080472.4
p.G232R
c.694G>C
NM_001080472.4
p.M32I
c.96G>T
NM_001080472.4
p.M32I
c.96G>C
NM_001080472.4
p.M32I
c.96G>A
NM_001080472.4
p.L204insFs
c.611_612dupTG
NM_001080472.4
p.Q218*
c.652C>T
NM_001080472.4
p.D151G
c.452A>G
NM_001080472.4
p.G13insFs
c.39dupG
NM_001080472.4
p.Y81D
c.241T>G
NM_001080472.4
p.G100R
c.298G>C