Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_005811.5
p.Y336*
c.1008C>A
NM_005811.5
p.Y336*
c.1008C>G
NM_005811.5
p.P28_A29ins1
c.84_85insGCG
NM_005811.5
p.A40del1
c.118_119delGCG
NM_005811.5
p.E46G
c.137A>G
NM_005811.5
p.L84_S85insGCG
c.250_254ins9
NM_005811.5
p.N94fs
c.280_281fs
NM_005811.5
p.Q147fs
c.439_440fs
NM_005811.5
p.G210V
c.629G>T
NM_005811.5
p.R295P
c.884G>C
NM_005811.5
p.R298Q
c.893G>A
NM_005811.5
p.E306K
c.916G>A