Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_018145.3
p.T386fs
c.1156_1157fs
NM_018145.3
p.Q33H
c.99G>T
NM_018145.3
p.Q33H
c.99G>C
NM_018145.3
p.L98L
c.294G>A
NM_018145.3
p.R138W
c.412C>T
NM_018145.3
p.Q331K
c.991C>A
NM_018145.3
p.T386insFs
c.1156dupA
NM_018145.3
p.G13insFs
c.37_38insG
NM_018145.3
p.Q33K
c.97C>A
NM_018145.3
p.T54_Q55delFs
c.162_163delGC
NM_018145.3
p.V63Splc
c.188-6C>G
NM_018145.3
p.V63Splc
c.188-1G>A