Papers
RefSeq ID
Protein change
DNA change
1–12 of 156 variants
NM_001099.5
p.V129insFs
c.385_386insA
NM_001099.5
p.G248_I249insFs
c.744_745insGG
NM_001099.5
p.W25*
c.75G>A
NM_001099.5
p.R43Q
c.128G>A
NM_001099.5
p.S48R
c.142A>C
NM_001099.5
p.S48R
c.144T>A
NM_001099.5
p.S48R
c.144T>G
NM_001099.5
p.D51N
c.151G>A
NM_001099.5
p.L73_G74insFs
c.219_220insA
NM_001099.5
p.Y84_I85insFs
c.252_253insA
NM_001099.5
p.K87M
c.260A>T
NM_001099.5
p.T118insFs
c.352_353insA