Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
NM_021083.4
p.R133*
c.397C>T
NM_021083.4
p.R222G
c.664C>G
NM_021083.4
p.Q299*
c.895C>T
NM_021083.4
p.E327K
c.979G>A
NM_021083.4
p.W314*
c.941G>A
NM_021083.4
p.W314*
c.942G>A
NM_021083.4
p.L286_Y287delFs
c.856_860del5
NM_021083.4
p.C294R
c.880T>C
NM_021083.4
p.C347S
c.1039T>A
NM_021083.4
p.C347S
c.1040G>C
NM_021083.4
p.Y370D
c.1108T>G
NM_021083.4
p.Y28insFs
c.82_83insC