Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001012991.3
p.I218fs
c.652_653fs
NM_001012991.3
p.I218delFs
c.652delT
NM_001012991.3
p.R28Q
c.83G>A
NM_001012991.3
p.I218insFs
c.652dupA
NM_001012991.3
p.T346M
c.1037C>T
NM_001012991.3
p.K15N
c.45G>T
NM_001012991.3
p.K15N
c.45G>C
NM_001012991.3
p.K65insFs
c.193dupA
NM_001012991.3
p.K67N
c.201G>T
NM_001012991.3
p.K67N
c.201G>C
NM_001012991.3
p.G73delFs
c.217_218delCC
NM_001012991.3
p.E94D
c.282G>T