Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_014868.5
p.R151H
c.452G>A
NM_014868.5
p.E572K
c.1714G>A
NM_014868.5
p.C225S
c.673T>A
NM_014868.5
p.C225S
c.674G>C
NM_014868.5
p.C228S
c.683G>C
NM_014868.5
p.E577K
c.1729G>A
NM_014868.5
p.A666V
c.1997C>T
NM_014868.5
p.D16V
c.47A>T
NM_014868.5
p.L69V
c.205C>G
NM_014868.5
p.K73Q
c.217A>C
NM_014868.5
p.K73*
c.217A>T
NM_014868.5
p.R82C
c.244C>T