Papers
RefSeq ID
Protein change
DNA change
1–12 of 104 variants
NM_024782.3
p.R178*
c.532C>T
NM_024782.3
p.R57G
c.169C>G
NM_024782.3
p.C123R
c.367T>C
NM_024782.3
p.R57*
c.169C>T
NM_024782.3
p.L130_V131Splc
c.390+1G>C
NM_024782.3
p.Y167*
c.501C>A
NM_024782.3
p.R176*
c.526C>T
NM_024782.3
p.K59_E60Splc
c.178-1G>A
NM_024782.3
p.L79P
c.236T>C
NM_024782.3
p.Y167*
c.501C>G
NM_024782.3
p.C74delFs
c.221_222delAC
NM_024782.3
p.E169V
c.506A>T