Papers
RefSeq ID
Protein change
DNA change
1–12 of 410 variants
NM_006996.3
p.G172D
c.515G>A
NM_006996.3
p.Y81insFs
c.242_243insA
NM_006996.3
p.S143F
c.428C>T
NM_006996.3
p.Q233*
c.697C>T
NM_006996.3
p.D93H
c.277G>C
NM_006996.3
p.E66*
c.196G>T
NM_006996.3
p.R162*
c.484C>T
NM_006996.3
p.Y81*
c.243C>G
NM_006996.3
p.Y81*
c.243C>A
NM_006996.3
p.G334D
c.1001G>A
NM_006996.3
p.I441T
c.1322T>C
NM_006996.3
p.K355Q
c.1063A>C