Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_139246.5
p.R83Q
c.248G>A
NM_139246.5
p.A109D
c.326C>A
NM_139246.5
p.V339I
c.1015G>A
NM_139246.5
p.S433C
c.1298C>G
NM_139246.5
p.E14Q
c.40G>C
NM_139246.5
p.Q183Q
c.549A>G
NM_139246.5
p.V226fs
c.676_677fs
NM_139246.5
p.G248A
c.743G>C
NM_139246.5
p.R256H
c.767G>A
NM_139246.5
p.P284Q
c.851C>A
NM_139246.5
p.F287L
c.859T>C
NM_139246.5
p.F287L
c.861T>G