Papers
RefSeq ID
Protein change
DNA change
1–12 of 257 variants
NM_016628.5
p.R47*
c.139C>T
NM_016628.5
p.E88_R89delFs
c.263_266del4
NM_016628.5
p.K175delFs
c.523_524delAA
NM_016628.5
p.R550*
c.1648C>T
NM_016628.5
p.S125*
c.374C>A
NM_016628.5
p.W574*
c.1721G>A
NM_016628.5
p.W574*
c.1722G>A
NM_016628.5
p.R613*
c.1837C>T
NM_016628.5
p.Q618*
c.1852C>T
NM_016628.5
p.L629delFs
c.1885_1886delTT
NM_016628.5
p.E88fs
c.262_263fs
NM_016628.5
p.S125*
c.374C>G