Papers
RefSeq ID
Protein change
DNA change
1–12 of 99 variants
NM_171998.4
p.G192R
c.574G>A
NM_171998.4
p.G192R
c.574G>C
NM_171998.4
p.T168K
c.503C>A
NM_171998.4
p.W186*
c.557G>A
NM_171998.4
p.W186*
c.558G>A
NM_171998.4
p.E179insFs
c.536dupA
NM_171998.4
p.Y7*
c.21C>A
NM_171998.4
p.F46insFs
c.137dupT
NM_171998.4
p.R72Splc
c.215+1G>A
NM_171998.4
p.Y7*
c.21C>G
NM_171998.4
p.K124delFs
c.371delT
NM_171998.4
p.A144delFs
c.432delT