Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_173833.6
p.D316H
c.946G>C
NM_173833.6
p.D89G
c.266A>G
NM_173833.6
p.A304V
c.911C>T
NM_173833.6
p.R43W
c.127C>T
NM_173833.6
p.R471H
c.1412G>A
NM_173833.6
p.M1delFs
c.2delA
NM_173833.6
p.N3S
c.8A>G
NM_173833.6
p.G38Splc
c.113-121G>C
NM_173833.6
p.Q51L
c.152A>T
NM_173833.6
p.G53V
c.158G>T
NM_173833.6
p.V81Splc
c.242-21543C>T
NM_173833.6
p.R85H
c.254G>A