Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_152327.5
p.L673P
c.2018T>C
NM_152327.5
p.E616K
c.1846G>A
NM_152327.5
p.K385*
c.1153A>T
NM_152327.5
p.N389K
c.1167C>A
NM_152327.5
p.N389K
c.1167C>G
NM_152327.5
p.L673R
c.2018T>G
NM_152327.5
p.R102Q
c.305G>A
NM_152327.5
p.H394R
c.1181A>G
NM_152327.5
p.V521I
c.1561G>A
NM_152327.5
p.E533K
c.1597G>A
NM_152327.5
p.R629Q
c.1886G>A
NM_152327.5
p.M1insFs
c.2dupT