Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_006443.3
p.E104Q
c.310G>C
NM_006443.3
p.W13S
c.38G>C
NM_006443.3
p.L23P
c.68T>C
NM_006443.3
p.E55Q
c.163G>C
NM_006443.3
p.E55A
c.164A>C
NM_006443.3
p.A58E
c.173C>A
NM_006443.3
p.G66fs
c.196_197fs
NM_006443.3
p.D73A
c.218A>C
NM_006443.3
p.D88N
c.262G>A
NM_006443.3
p.G102G
c.306C>G
NM_006443.3
p.E104A
c.311A>C
NM_006443.3
p.L105P
c.314T>C