Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_000911.4
p.C27F
c.80G>T
NM_000911.4
p.Q12H
c.36G>T
NM_000911.4
p.A94A
c.282C>T
NM_000911.4
p.G307G
c.921C>T
NM_000911.4
p.S6F
c.17C>T
NM_000911.4
p.E2*
c.4G>T
NM_000911.4
p.A58S
c.172G>T
NM_000911.4
p.D95N
c.283G>A
NM_000911.4
p.R192Q
c.575G>A
NM_000911.4
p.D193Splc
c.577+691G>C
NM_000911.4
p.Y233*
c.699T>A
NM_000911.4
p.Y233*
c.699T>G