Papers
RefSeq ID
Protein change
DNA change
1–12 of 625 variants
NM_001396.5
p.R205*
c.613C>T
NM_001347721.2
p.I48fs
c.142_143fs
NM_001396.5
p.R255*
c.763C>T
NM_001347721.2
p.I48delFs
c.143_144delTA
NM_001396.5
p.S311F
c.932C>T
NM_001347721.2
p.K179R
c.536A>G
NM_001396.5
p.E208fs
c.622_623fs
NM_001396.5
p.R263*
c.787C>T
NM_001396.5
p.Q267*
c.799C>T
NM_001396.5
p.R437*
c.1309C>T
NM_001396.5
p.T588N
c.1763C>A
NM_001396.5
p.S97fs
c.289_290fs