Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_031909.3
p.P11_L17delFs
c.33_49del17
NM_031909.3
p.H198Q
c.594C>G
NM_031909.3
p.H198Q
c.594C>A
NM_031909.3
p.A12fs
c.34_35fs
NM_031909.3
p.R36C
c.106C>T
NM_031909.3
p.T81M
c.242C>T
NM_031909.3
p.Q141H
c.423G>T
NM_031909.3
p.Q141H
c.423G>C
NM_031909.3
p.D191G
c.572A>G
NM_031909.3
p.D260N
c.778G>A
NM_031909.3
p.G262S
c.784G>A
NM_031909.3
p.A12fs
c.34_35fs