Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
NM_018051.5
p.Q631*
c.1891C>T
NM_018051.5
p.T749M
c.2246C>T
NM_018051.5
p.Q273R
c.818A>G
NM_018051.5
p.K35delFs
c.104_105delAG
NM_018051.5
p.L104_K105del2
c.310_314del6
NM_018051.5
p.L104_K105del1
c.312_314delGAA
NM_018051.5
p.N225K
c.675C>A
NM_018051.5
p.N225K
c.675C>G
NM_018051.5
p.K325insFs
c.975dupA
NM_018051.5
p.D361delFs
c.1083delT
NM_018051.5
p.G568Splc
c.1703-3T>A
NM_018051.5
p.R593W
c.1777C>T