Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_016504.3
p.L8P
c.23T>C
NM_016504.3
p.T24A
c.70A>G
NM_016504.3
p.Y30N
c.88T>A
NM_016504.3
p.S35A
c.103T>G
NM_016504.3
p.K40R
c.119A>G
NM_016504.3
p.G44R
c.130G>A
NM_016504.3
p.K45_S46delFs
c.134_138del5
NM_016504.3
p.G48_R49Fs
c.143_147delinsGTGGAACGCCCGGCCTCAGTGAGCGAGCGAGCGCGCAGAGAGGGAGTGGCCAFs
NM_016504.3
p.R74C
c.220C>T
NM_016504.3
p.G95G
c.285G>A
NM_016504.3
p.A124_F130del7
c.370_389del21
NM_016504.3
p.V131V
c.393C>T