Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_032136.5
p.R442Q
c.1325G>A
NM_032136.5
p.Y325fs
c.973_974fs
NM_032136.5
p.Y325delFs
c.974_975delAT
NM_032136.5
p.C447F
c.1340G>T
NM_032136.5
p.A466T
c.1396G>A
NM_032136.5
p.R17Q
c.50G>A
NM_032136.5
p.T56M
c.167C>T
NM_032136.5
p.D63fs
c.187_188fs
NM_032136.5
p.P67S
c.199C>T
NM_032136.5
p.N69T
c.206A>C
NM_032136.5
p.D70V
c.209A>T
NM_032136.5
p.L74F
c.220C>T