Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_017884.6
p.S254C
c.760A>T
NM_017884.6
p.R215I
c.644G>T
NM_017884.6
p.Q50H
c.150A>T
NM_017884.6
p.Q50H
c.150A>C
NM_017884.6
p.Q206H
c.618G>T
NM_017884.6
p.Q206H
c.618G>C
NM_017884.6
p.T220A
c.658A>G
NM_017884.6
p.S2C
c.5C>G
NM_017884.6
p.R7Splc
c.19+1G>T
NM_017884.6
p.D16G
c.47A>G
NM_017884.6
p.R32insFs
c.94_95dupCG
NM_017884.6
p.M33fs
c.97_98fs