Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_001105571.3
p.D143Y
c.427G>T
NM_001105571.3
p.E25K
c.73G>A
NM_001105571.3
p.V26delFs
c.76delC
NM_001105571.3
p.V26fs
c.76_77fs
NM_001105571.3
p.S47S
c.141A>G
NM_001105571.3
p.E52Splc
c.155-3C>T
NM_001105571.3
p.T59delFs
c.176delG
NM_001105571.3
p.Y78C
c.233A>G
NM_001105571.3
p.D79V
c.236A>T
NM_001105571.3
p.D99V
c.296A>T
NM_001105571.3
p.L100F
c.298C>T
NM_001105571.3
p.E141D
c.423G>T