Papers
RefSeq ID
Protein change
DNA change
1–12 of 175 variants
NM_014797.3
p.C408G
c.1222T>G
NM_014797.3
p.R320*
c.958C>T
NM_014797.3
p.C383Y
c.1148G>A
NM_014797.3
p.R457*
c.1369C>T
NM_014797.3
p.K263*
c.787A>T
NM_014797.3
p.S278*
c.833C>G
NM_014797.3
p.S278*
c.833C>A
NM_014797.3
p.S16*
c.47C>G
NM_014797.3
p.S16*
c.47C>A
NM_014797.3
p.R49Q
c.146G>A
NM_014797.3
p.N306delFs
c.917delT
NM_014797.3
p.R457*
c.1369C>T