Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_000370.3
p.E248delFs
c.744delT
NM_000370.3
p.H101Q
c.303T>G
NM_000370.3
p.I171_T172insFs
c.513_514insTT
NM_000370.3
p.H101Q
c.303T>A
NM_000370.3
p.R59W
c.175C>T
NM_000370.3
p.A120T
c.358G>A
NM_000370.3
p.R221W
c.661C>T
NM_000370.3
p.R134*
c.400C>T
NM_000370.3
p.E141K
c.421G>A
NM_000370.3
p.R192H
c.575G>A
NM_000370.3
p.T184T
c.552G>A
NM_000370.3
p.W163delFs
c.487delA