Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_001324445.2
p.E89D
c.267G>T
NM_001324445.2
p.E89D
c.267G>C
NM_001324445.2
p.V90I
c.268G>A
NM_001324445.2
p.H167N
c.499C>A
NM_001324445.2
p.T242P
c.724A>C
NM_001324445.2
p.A4T
c.10G>A
NM_001324445.2
p.A8S
c.22G>T
NM_001324445.2
p.G16R
c.46G>C
NM_001324445.2
p.G16R
c.46G>A
NM_001324445.2
p.K69Q
c.205A>C
NM_001324445.2
p.G72R
c.214G>C
NM_001324445.2
p.G72R
c.214G>A