Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
NM_012398.3
p.D253N
c.757G>A
NM_012398.3
p.Y221C
c.662A>G
NM_012398.3
p.P659S
c.1975C>T
NM_012398.3
p.E269D
c.807G>T
NM_012398.3
p.E269D
c.807G>C
NM_012398.3
p.D316A
c.947A>C
NM_012398.3
p.E542K
c.1624G>A
NM_012398.3
p.Y649F
c.1946A>T
NM_012398.3
p.A656T
c.1966G>A
NM_012398.3
p.P659L
c.1976C>T
NM_012398.3
p.M1insFs
c.3dupG
NM_012398.3
p.E2D
c.6G>C