Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_004469.5
p.C312C
c.936C>T
NM_004469.5
p.E212Q
c.634G>C
NM_004469.5
p.R39Q
c.116G>A
NM_004469.5
p.D213G
c.638A>G
NM_004469.5
p.V16fs
c.46_47fs
NM_004469.5
p.Q17H
c.51G>C
NM_004469.5
p.G21_S22insFs
c.63_64insA
NM_004469.5
p.V29M
c.85G>A
NM_004469.5
p.R31Q
c.92G>A
NM_004469.5
p.R85W
c.253C>T
NM_004469.5
p.R88S
c.264G>T
NM_004469.5
p.R88S
c.264G>C