Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_003753.4
p.W16*
c.48G>A
NM_003753.4
p.G17A
c.50G>C
NM_003753.4
p.P18A
c.52C>G
NM_003753.4
p.V21A
c.62T>C
NM_003753.4
p.F80Y
c.239T>A
NM_003753.4
p.V83E
c.248T>A
NM_003753.4
p.Y93S
c.278A>C
NM_003753.4
p.R106C
c.316C>T
NM_003753.4
p.K127N
c.381A>T
NM_003753.4
p.K171E
c.511A>G
NM_003753.4
p.E173K
c.517G>A
NM_003753.4
p.Q191*
c.571C>T