Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_020704.3
p.E41G
c.122A>G
NM_020704.3
p.R187Q
c.560G>A
NM_020704.3
p.A14fs
c.40_41fs
NM_020704.3
p.S45P
c.133T>C
NM_020704.3
p.A58V
c.173C>T
NM_020704.3
p.D103N
c.307G>A
NM_020704.3
p.A104G
c.311C>G
NM_020704.3
p.R115L
c.344G>T
NM_020704.3
p.R129W
c.385C>T
NM_020704.3
p.E145*
c.433G>T
NM_020704.3
p.C182R
c.544T>C
NM_020704.3
p.D195N
c.583G>A