Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_016018.5
p.Y121C
c.362A>G
NM_016018.5
p.R603Q
c.1808G>A
NM_016018.5
p.M1_S2ins4
c.3_4ins12
NM_016018.5
p.N7delFs
c.20delA
NM_016018.5
p.N7fs
c.19_20fs
NM_016018.5
p.R8H
c.23G>A
NM_016018.5
p.I11insFs
c.33dupC
NM_016018.5
p.R18H
c.53G>A
NM_016018.5
p.D23A
c.68A>C
NM_016018.5
p.G41delFs
c.122delG
NM_016018.5
p.G41fs
c.121_122fs
NM_016018.5
p.R49G
c.145C>G