Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_019099.5
p.A187delFs
c.559delC
NM_019099.5
p.A187fs
c.559_560fs
NM_019099.5
p.R244C
c.730C>T
NM_019099.5
p.E272D
c.816G>T
NM_019099.5
p.E272D
c.816G>C
NM_019099.5
p.M3T
c.8T>C
NM_019099.5
p.E7K
c.19G>A
NM_019099.5
p.M8T
c.23T>C
NM_019099.5
p.Q32K
c.94C>A
NM_019099.5
p.E53K
c.157G>A
NM_019099.5
p.Q54H
c.162G>T
NM_019099.5
p.Q54H
c.162G>C