Papers
RefSeq ID
Protein change
DNA change
1–12 of 140 variants
NM_003283.6
p.E180*
c.538G>T
NM_003283.6
p.E104V
c.311A>T
NM_003283.6
p.E169*
c.505G>T
NM_003283.6
p.S108*
c.323C>G
NM_003283.6
p.S108*
c.323C>A
NM_003283.6
p.I103_E104Splc
c.309+1G>A
NM_003283.6
p.P192_L193Fs
c.574_577delinsTAGTGCTGTFs
NM_003283.6
p.Q262delFs
c.786delC
NM_003283.6
p.L96P
c.287T>C
NM_003283.6
p.K263fs
c.787_788fs
NM_003283.6
p.L193L
c.579G>T
NM_003283.6
p.R204Splc
c.611+1G>A