Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_173791.5
p.Y298*
c.894C>G
NM_173791.5
p.R897Q
c.2690G>A
NM_173791.5
p.G42S
c.124G>A
NM_173791.5
p.E197Q
c.589G>C
NM_173791.5
p.R291Splc
c.872+10A>T
NM_173791.5
p.Y298*
c.894C>A
NM_173791.5
p.A482T
c.1444G>A
NM_173791.5
p.F511L
c.1531T>C
NM_173791.5
p.F511L
c.1533C>G
NM_173791.5
p.F511L
c.1533C>A
NM_173791.5
p.P566L
c.1697C>T
NM_173791.5
p.N850K
c.2550C>G