Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_024927.5
p.R281W
c.841C>T
NM_024927.5
p.S367L
c.1100C>T
NM_024927.5
p.C13_R14del1
c.38_40delGGC
NM_024927.5
p.G33_E35ins1
c.98_103dup6
NM_024927.5
p.D38_E40del0
c.114_119del6
NM_024927.5
p.D38_E40del3
c.112_119del9
NM_024927.5
p.D38_T41delFs
c.113_122del10
NM_024927.5
p.P64T
c.190C>A
NM_024927.5
p.P64fs
c.190_191fs
NM_024927.5
p.P64delFs
c.191delG
NM_024927.5
p.I96T
c.287T>C
NM_024927.5
p.Y103F
c.308A>T