Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_018066.4
p.R264G
c.790A>G
NM_018066.4
p.S162F
c.485C>T
NM_018066.4
p.G3insFs
c.8_9ins5
NM_018066.4
p.T8_A9ins5
c.22_26ins15
NM_018066.4
p.K22R
c.65A>G
NM_018066.4
p.T24M
c.71C>T
NM_018066.4
p.A35V
c.104C>T
NM_018066.4
p.P47fs
c.139_140fs
NM_018066.4
p.A57T
c.169G>A
NM_018066.4
p.R74C
c.220C>T
NM_018066.4
p.Y83*
c.249C>G
NM_018066.4
p.Y83*
c.249C>A