Papers
RefSeq ID
Protein change
DNA change
1–12 of 128 variants
NM_006282.5
p.W250*
c.750G>A
NM_006282.5
p.W250*
c.749G>A
NM_006282.5
p.R117*
c.349C>T
NM_006282.5
p.M368delFs
c.1103delT
NM_006282.5
p.R115*
c.343C>T
NM_006282.5
p.R148*
c.442C>T
NM_006282.5
p.Q274insFs
c.821dupA
NM_006282.5
p.R291*
c.871C>T
NM_006282.5
p.R342*
c.1024C>T
NM_006282.5
p.K59R
c.176A>G
NM_006282.5
p.R117Q
c.350G>A
NM_006282.5
p.T175_D176Splc
c.525+2T>G