Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_004493.3
p.R130C
c.388C>T
NM_004493.3
p.L122V
c.364C>G
NM_004493.3
p.N247S
c.740A>G
NM_004493.3
p.P210S
c.628C>T
NM_004493.3
p.R226Q
c.677G>A
NM_004493.3
p.E249Q
c.745G>C
NM_004493.3
p.D86G
c.257A>G
NM_004493.3
p.Q165H
c.495A>T
NM_004493.3
p.Q165H
c.495A>C
NM_004493.3
p.R192R
c.574C>A
NM_004493.3
p.V65A
c.194T>C
NM_004493.3
p.K212E
c.634A>G