Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_005149.3
p.R286*
c.856C>T
NM_005149.3
p.R179*
c.535C>T
NM_005149.3
p.S128F
c.383C>T
NM_005149.3
p.I171T
c.512T>C
NM_005149.3
p.T58A
c.172A>G
NM_005149.3
p.M86R
c.257T>G
NM_005149.3
p.N261delFs
c.782delA
NM_005149.3
p.Q28*
c.82C>T
NM_005149.3
p.R100H
c.299G>A
NM_005149.3
p.P126L
c.377C>T
NM_005149.3
p.T195A
c.583A>G
NM_005149.3
p.R222Splc
c.665+1G>A