Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_015939.5
p.E299G
c.896A>G
NM_015939.5
p.E299delins
c.896_897delinsGG
NM_015939.5
p.G3D
c.8G>A
NM_015939.5
p.K43Splc
c.128+258C>A
NM_015939.5
p.A65V
c.194C>T
NM_015939.5
p.R80G
c.238A>G
NM_015939.5
p.P83S
c.247C>T
NM_015939.5
p.D109E
c.327T>G
NM_015939.5
p.D109E
c.327T>A
NM_015939.5
p.Q127H
c.381G>T
NM_015939.5
p.Q127H
c.381G>C
NM_015939.5
p.K153delFs
c.458delT