Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_018425.4
p.S22*
c.65C>A
NM_018425.4
p.R275W
c.823C>T
NM_018425.4
p.D308A
c.923A>C
NM_018425.4
p.R309*
c.925C>T
NM_018425.4
p.I130_Y131delFs
c.389_392del4
NM_018425.4
p.L162F
c.484C>T
NM_018425.4
p.R328Q
c.983G>A
NM_018425.4
p.S389_N392del4
c.1165_1175del12
NM_018425.4
p.Q14*
c.40C>T
NM_018425.4
p.Y18Fs
c.54delinsCGFs
NM_018425.4
p.A40A
c.120G>A
NM_018425.4
p.S51A
c.151T>G