Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_018055.5
p.G260R
c.778G>A
NM_018055.5
p.G260R
c.778G>C
NM_018055.5
p.H165R
c.494A>G
NM_018055.5
p.R275C
c.823C>T
NM_018055.5
p.E203K
c.607G>A
NM_018055.5
p.R183Q
c.548G>A
NM_018055.5
p.V284F
c.850G>T
NM_018055.5
p.R302C
c.904C>T
NM_018055.5
p.D65Splc
c.194-1G>T
NM_018055.5
p.R234_P241delins
c.700_723delinsTTGACTTCC
NM_018055.5
p.R275H
c.824G>A
NM_018055.5
p.Q297_S298Splc
c.892-1G>C