Papers
RefSeq ID
Protein change
DNA change
1–12 of 146 variants
NM_016353.5
p.R120W
c.358A>T
NM_016353.5
p.F213I
c.637T>A
NM_016353.5
p.V53Splc
c.157+1G>A
NM_016353.5
p.L29insFs
c.85_86insG
NM_016353.5
p.S167insFs
c.500_501insT
NM_016353.5
p.G288D
c.863G>A
NM_016353.5
p.R12delFs
c.35delG
NM_016353.5
p.L29fs
c.85_86fs
NM_016353.5
p.W68delFs
c.203delG
NM_016353.5
p.A125Splc
c.374-2A>G
NM_016353.5
p.L174P
c.521T>C
NM_016353.5
p.R269Q
c.806G>A