Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_022071.4
p.E209G
c.626A>G
NM_022071.4
p.L236Splc
c.706+1G>A
NM_022071.4
p.R324W
c.970C>T
NM_022071.4
p.Q25Q
c.75G>A
NM_022071.4
p.Q35E
c.103C>G
NM_022071.4
p.E61Splc
c.182-8G>A
NM_022071.4
p.D73H
c.217G>C
NM_022071.4
p.E83K
c.247G>A
NM_022071.4
p.Y90delFs
c.269delA
NM_022071.4
p.A102D
c.305C>A
NM_022071.4
p.A102A
c.306C>G
NM_022071.4
p.A106_E111del6
c.316_332del18