Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001080487.4
p.P3L
c.8C>T
NM_001080487.4
p.R7C
c.19C>T
NM_001080487.4
p.Q15H
c.45G>C
NM_001080487.4
p.Q28*
c.82C>T
NM_001080487.4
p.T119I
c.356C>T
NM_001080487.4
p.C132*
c.396C>A
NM_001080487.4
p.T137delFs
c.409delT
NM_001080487.4
p.T137fs
c.409_410fs
NM_001080487.4
p.E140K
c.418G>A
NM_001080487.4
p.N153H
c.457A>C
NM_001080487.4
p.G214D
c.641G>A
NM_001080487.4
p.G235R
c.703G>C