Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_016059.5
p.R131Q
c.392G>A
NM_016059.5
p.A99T
c.295G>A
NM_016059.5
p.P33P
c.99A>T
NM_016059.5
p.T107A
c.319A>G
NM_016059.5
p.G109C
c.325G>T
NM_016059.5
p.T127A
c.379A>G
NM_016059.5
p.Q10*
c.28C>T
NM_016059.5
p.L25fs
c.73_74fs
NM_016059.5
p.C36S
c.106T>A
NM_016059.5
p.C36S
c.107G>C
NM_016059.5
p.R55K
c.164G>A
NM_016059.5
p.F82S
c.245T>C