Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_006573.5
p.A105T
c.313G>A
NM_006573.5
p.V63V
c.189G>A
NM_006573.5
p.Q68_V69insFs
c.204_205insA
NM_006573.5
p.K113_I114Splc
c.340-45C>G
NM_006573.5
p.Q136R
c.407A>G
NM_006573.5
p.Q159*
c.475C>T
NM_006573.5
p.T164A
c.490A>G
NM_006573.5
p.F172L
c.514T>C
NM_006573.5
p.A207T
c.619G>A
NM_006573.5
p.L211V
c.631C>G
NM_006573.5
p.M1insFs
c.2dupT
NM_006573.5
p.M1T
c.2T>C