Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_033452.3
p.R187W
c.559C>T
NM_033452.3
p.A560insFs
c.1680dupC
NM_033452.3
p.G3D
c.8G>A
NM_033452.3
p.C12S
c.34T>A
NM_033452.3
p.C12S
c.35G>C
NM_033452.3
p.E18K
c.52G>A
NM_033452.3
p.A35V
c.104C>T
NM_033452.3
p.L36R
c.107T>G
NM_033452.3
p.G46ins3
c.137_138ins9
NM_033452.3
p.G47R
c.139G>A
NM_033452.3
p.Q58R
c.173A>G
NM_033452.3
p.T72T
c.216G>A