Papers
RefSeq ID
Protein change
DNA change
NM_178429.5
p.Q4*
c.10C>T
NM_178429.5
p.Q87K
c.259C>A
NM_178429.5
p.C32*
c.96C>A
NM_178429.5
p.H75_H76delFs
c.224_227del4
NM_178429.5
p.R84H
c.251G>A
NM_178429.5
p.R84R
c.252C>A
NM_178429.5
p.Q87R
c.260A>G
NM_178429.5
p.C109fs
c.325_326fs
NM_178429.5
p.C110*
c.330C>A