Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_016561.3
p.R16G
c.46A>G
NM_016561.3
p.M140R
c.419T>G
NM_016561.3
p.R360Q
c.1079G>A
NM_016561.3
p.A63E
c.188C>A
NM_016561.3
p.K76E
c.226A>G
NM_016561.3
p.I85V
c.253A>G
NM_016561.3
p.E244Q
c.730G>C
NM_016561.3
p.P412T
c.1234C>A
NM_016561.3
p.V438M
c.1312G>A
NM_016561.3
p.M1insFs
c.2dupT
NM_016561.3
p.M1T
c.2T>C
NM_016561.3
p.P4P
c.12T>C