Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_031421.5
p.K82delFs
c.245delA
NM_031421.5
p.W239*
c.716G>A
NM_031421.5
p.S133Splc
c.397+1G>A
NM_031421.5
p.D207delFs
c.619delG
NM_031421.5
p.H235insFs
c.704dupA
NM_031421.5
p.N38_A39Splc
c.114+1G>T
NM_031421.5
p.K82fs
c.244_245fs
NM_031421.5
p.K142insFs
c.425_426insT
NM_031421.5
p.Q151*
c.451C>T
NM_031421.5
p.L219_T220delFs
c.655_659del5
NM_031421.5
p.T382Splc
c.1145+1G>A
NM_031421.5
p.Q425_C426insT
c.1273_1277ins3