Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_024592.5
p.W19*
c.57G>A
NM_024592.5
p.W19*
c.56G>A
NM_024592.5
p.Q96Fs
c.286_288delinsTGAGTAAGGCFs
NM_024592.5
p.W107*
c.320G>A
NM_024592.5
p.W107*
c.321G>A
NM_024592.5
p.R142*
c.424C>T
NM_024592.5
p.Y163*
c.489C>A
NM_024592.5
p.Y163*
c.489C>G
NM_024592.5
p.S10*
c.29C>A
NM_024592.5
p.E146K
c.436G>A
NM_024592.5
p.P307R
c.920C>G
NM_024592.5
p.L98delFs
c.292_293delCT