Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_006701.5
p.Q13*
c.37C>T
NM_006701.5
p.V44fs
c.130_131fs
NM_006701.5
p.V44delFs
c.131delA
NM_006701.5
p.R86Splc
c.258-2A>G
NM_006701.5
p.K88delFs
c.262delT
NM_006701.5
p.E117*
c.349G>T
NM_006701.5
p.M1V
c.1A>G
NM_006701.5
p.M1I
c.3G>C
NM_006701.5
p.S2L
c.5C>T
NM_006701.5
p.L5F
c.13C>T
NM_006701.5
p.L19L
c.57C>T
NM_006701.5
p.H32fs
c.94_95fs