Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_007114.3
p.D798H
c.2392G>C
NM_007114.3
p.E231G
c.692A>G
NM_007114.3
p.P47fs
c.139_140fs
NM_007114.3
p.G48Splc
c.142+4A>C
NM_007114.3
p.W57insFs
c.171dupG
NM_007114.3
p.G63delFs
c.189delC
NM_007114.3
p.Q71K
c.211C>A
NM_007114.3
p.R86W
c.256C>T
NM_007114.3
p.R86Q
c.257G>A
NM_007114.3
p.R124insFs
c.370_371insTG
NM_007114.3
p.E128*
c.382G>T
NM_007114.3
p.S136F
c.407C>T