Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_024699.3
p.R130*
c.388C>T
NM_024699.3
p.G30R
c.88G>C
NM_024699.3
p.G30R
c.88G>A
NM_024699.3
p.M1insFs
c.2dupT
NM_024699.3
p.G7R
c.19G>C
NM_024699.3
p.G7R
c.19G>A
NM_024699.3
p.G7insFs
c.21dupG
NM_024699.3
p.R39K
c.116G>A
NM_024699.3
p.H42Y
c.124C>T
NM_024699.3
p.V47delFs
c.139delC
NM_024699.3
p.V47fs
c.139_140fs
NM_024699.3
p.Y62*
c.186C>G