Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_002078.5
p.Q1028K
c.3082C>A
NM_002078.5
p.M1793K
c.5378T>A
NM_002078.5
p.R142Q
c.425G>A
NM_002078.5
p.T259S
c.776C>G
NM_002078.5
p.E428K
c.1282G>A
NM_002078.5
p.R452C
c.1354C>T
NM_002078.5
p.V513E
c.1538T>A
NM_002078.5
p.E834A
c.2501A>C
NM_002078.5
p.T1538A
c.4612A>G
NM_002078.5
p.I1794T
c.5381T>C
NM_002078.5
p.L1932S
c.5795T>C
NM_002078.5
p.T2164M
c.6491C>T