Papers
RefSeq ID
Protein change
DNA change
1–12 of 272 variants
NM_005251.3
p.R121H
c.362G>A
NM_005251.3
p.S125L
c.374C>T
NM_005251.3
p.Q315*
c.943C>T
NM_005251.3
p.R121C
c.361C>T
NM_005251.3
p.Q100*
c.298C>T
NM_005251.3
p.C498R
c.1492T>C
NM_005251.3
p.Q444R
c.1331A>G
NM_005251.3
p.H199insFs
c.595dupC
NM_005251.3
p.H199insFs
c.596_597insC
NM_005251.3
p.Y99*
c.297C>G
NM_005251.3
p.E343*
c.1027G>T
NM_005251.3
p.H62Q
c.186C>A