Papers
RefSeq ID
Protein change
DNA change
1–12 of 144 variants
NM_024666.5
p.R124*
c.370C>T
NM_024666.5
p.R161*
c.481C>T
NM_024666.5
p.K290_V291Splc
c.870+1G>A
NM_024666.5
p.G158delFs
c.472delC
NM_024666.5
p.D115delFs
c.344delT
NM_024666.5
p.R116_V117delFs
c.348_349delCT
NM_024666.5
p.W47*
c.140G>A
NM_024666.5
p.P64_N65delFs
c.191_194del4
NM_024666.5
p.D151Splc
c.451+1G>A
NM_024666.5
p.G158fs
c.472_473fs
NM_024666.5
p.D115fs
c.343_344fs
NM_024666.5
p.V139I
c.415G>A