Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
NM_006215.4
p.R191*
c.571C>T
NM_006215.4
p.A52V
c.155C>T
NM_006215.4
p.G120G
c.360C>G
NM_006215.4
p.H126L
c.377A>T
NM_006215.4
p.R306Q
c.917G>A
NM_006215.4
p.A377T
c.1129G>A
NM_006215.4
p.M1delFs
c.3delG
NM_006215.4
p.M1I
c.3G>A
NM_006215.4
p.H2N
c.4C>A
NM_006215.4
p.H2Q
c.6T>A
NM_006215.4
p.L7insFs
c.19_20insA
NM_006215.4
p.L11fs
c.31_32fs