Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001545.3
p.Q53P
c.158A>C
NM_001545.3
p.R141H
c.422G>A
NM_001545.3
p.T4S
c.10A>T
NM_001545.3
p.T4S
c.11C>G
NM_001545.3
p.R8L
c.23G>T
NM_001545.3
p.Y49D
c.145T>G
NM_001545.3
p.D69N
c.205G>A
NM_001545.3
p.P73S
c.217C>T
NM_001545.3
p.R83Q
c.248G>A
NM_001545.3
p.K94fs
c.280_281fs
NM_001545.3
p.R155*
c.463C>T
NM_001545.3
p.E171D
c.513A>C