Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_012375.3
p.G268_S269insFs
c.804_805insG
NM_012375.3
p.S269fs
c.805_806fs
NM_012375.3
p.R124H
c.371G>A
NM_012375.3
p.S272P
c.814T>C
NM_012375.3
p.S2Y
c.5C>A
NM_012375.3
p.T7insFs
c.19_20insT
NM_012375.3
p.T7insFs
c.20dupC
NM_012375.3
p.T7fs
c.19_20fs
NM_012375.3
p.P11L
c.32C>T
NM_012375.3
p.L14*
c.41T>A
NM_012375.3
p.L14delFs
c.41delA
NM_012375.3
p.G18E
c.53G>A