Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_001012642.3
p.A23T
c.67G>A
NM_001012642.3
p.D237fs
c.709_710fs
NM_001012642.3
p.T236_D237delFs
c.706_709del4
NM_001012642.3
p.G269A
c.806G>C
NM_001012642.3
p.E8V
c.23A>T
NM_001012642.3
p.S194*
c.581C>G
NM_001012642.3
p.S194*
c.581C>A
NM_001012642.3
p.E8A
c.23A>C
NM_001012642.3
p.T22T
c.66A>G
NM_001012642.3
p.K58insFs
c.173dupA
NM_001012642.3
p.K59fs
c.175_176fs
NM_001012642.3
p.K58Fs
c.173delinsAGFs