Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
NM_003365.3
p.Y314S
c.941A>C
NM_003365.3
p.I311L
c.931A>C
NM_003365.3
p.S23_P24Splc
c.70-1G>A
NM_003365.3
p.A25fs
c.73_74fs
NM_003365.3
p.D215H
c.643G>C
NM_003365.3
p.E110D
c.330G>T
NM_003365.3
p.E110D
c.330G>C
NM_003365.3
p.E435K
c.1303G>A
NM_003365.3
p.A25insFs
c.73_74insG
NM_003365.3
p.V73_W74insG
c.217_221ins3
NM_003365.3
p.P267R
c.800C>G
NM_003365.3
p.R269H
c.806G>A