Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_007059.4
p.V238_V244ins2
c.714_731dup18
NM_007059.4
p.S259*
c.776C>A
NM_007059.4
p.Q132Splc
c.394+1G>A
NM_007059.4
p.S199_S200insFs
c.597_598dupTA
NM_007059.4
p.Q222insFs
c.665dupA
NM_007059.4
p.S200fs
c.598_599fs
NM_007059.4
p.R288Q
c.863G>A
NM_007059.4
p.S223fs
c.667_668fs
NM_007059.4
p.R288Q
c.863G>A
NM_007059.4
p.D377N
c.1129G>A
NM_007059.4
p.T20_F22del0
c.58_66del9
NM_007059.4
p.L58_A66del9
c.172_197del27