Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_002408.4
p.K237N
c.711G>C
NM_002408.4
p.K237N
c.711G>T
NM_002408.4
p.S290F
c.869C>T
NM_002408.4
p.N318D
c.952A>G
NM_002408.4
p.H262R
c.785A>G
NM_002408.4
p.C339*
c.1017T>A
NM_002408.4
p.K33N
c.99G>C
NM_002408.4
p.K33N
c.99G>T
NM_002408.4
p.K231delFs
c.693delA
NM_002408.4
p.M1K
c.2T>A
NM_002408.4
p.L13fs
c.37_38fs
NM_002408.4
p.L13_L15delFs
c.39_45del7