Papers
RefSeq ID
Protein change
DNA change
1–12 of 147 variants
NM_018439.4
p.G4G
c.12G>C
NM_018439.4
p.G4G
c.12G>A
NM_018439.4
p.R162Q
c.485G>A
NM_018439.4
p.Y220C
c.659A>G
NM_018439.4
p.G240A
c.719G>C
NM_018439.4
p.Q55_V56Splc
c.165+1G>A
NM_018439.4
p.P68H
c.203C>A
NM_018439.4
p.P75L
c.224C>T
NM_018439.4
p.D157N
c.469G>A
NM_018439.4
p.R162W
c.484C>T
NM_018439.4
p.I173V
c.517A>G
NM_018439.4
p.G240E
c.719G>A