Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_001039503.3
p.Q30R
c.89A>G
NM_001039503.3
p.P406A
c.1216C>G
NM_001039503.3
p.G34S
c.100G>A
NM_001039503.3
p.P49T
c.145C>A
NM_001039503.3
p.Q57H
c.171A>T
NM_001039503.3
p.Q57H
c.171A>C
NM_001039503.3
p.C62delFs
c.185_186delGC
NM_001039503.3
p.T85K
c.254C>A
NM_001039503.3
p.S89F
c.266C>T
NM_001039503.3
p.Q98*
c.292C>T
NM_001039503.3
p.R151C
c.451C>T
NM_001039503.3
p.L177V
c.529C>G