Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_016366.3
p.E213Splc
c.637+1G>T
NM_016366.3
p.I197T
c.590T>C
NM_016366.3
p.R63Q
c.188G>A
NM_016366.3
p.R94Q
c.281G>A
NM_016366.3
p.A42T
c.124G>A
NM_016366.3
p.G104D
c.311G>A
NM_016366.3
p.E156*
c.466G>T
NM_016366.3
p.E163delFs
c.487delC
NM_016366.3
p.E163fs
c.487_488fs
NM_016366.3
p.E163_F164Splc
c.490-1G>T
NM_016366.3
p.F164fs
c.490_491fs
NM_016366.3
p.G12delFs
c.35delC