Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_001080462.3
p.R23Q
c.68G>A
NM_001080462.3
p.K18*
c.52A>T
NM_001080462.3
p.R23W
c.67C>T
NM_001080462.3
p.R27_P28Splc
c.82-32T>C
NM_001080462.3
p.A32T
c.94G>A
NM_001080462.3
p.A52T
c.154G>A
NM_001080462.3
p.I54F
c.160A>T
NM_001080462.3
p.M74V
c.220A>G
NM_001080462.3
p.Y92Y
c.276C>T
NM_001080462.3
p.T97T
c.291C>A
NM_001080462.3
p.W105*
c.314G>A
NM_001080462.3
p.W105*
c.315G>A