Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_003651.5
p.R236W
c.706C>T
NM_003651.5
p.T14del1
c.40_41delGGT
NM_003651.5
p.T75A
c.223A>G
NM_003651.5
p.N127Y
c.379A>T
NM_003651.5
p.S34R
c.102C>A
NM_003651.5
p.A40V
c.119C>T
NM_003651.5
p.A40_Q42del3
c.118_125del9
NM_003651.5
p.R109Splc
c.327-4A>G
NM_003651.5
p.R129W
c.385C>T
NM_003651.5
p.R224C
c.670C>T
NM_003651.5
p.Q231P
c.692A>C
NM_003651.5
p.M1T
c.2T>C