Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_052916.3
p.E269K
c.805G>A
NM_052916.3
p.C638S
c.1912T>A
NM_052916.3
p.C638S
c.1913G>C
NM_052916.3
p.G208R
c.622G>C
NM_052916.3
p.G208R
c.622G>A
NM_052916.3
p.G30fs
c.88_89fs
NM_052916.3
p.P49S
c.145C>T
NM_052916.3
p.A73S
c.217G>T
NM_052916.3
p.P80fs
c.238_239fs
NM_052916.3
p.L84V
c.250C>G
NM_052916.3
p.S86N
c.257G>A
NM_052916.3
p.C100*
c.300T>A