Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001044369.3
p.A65E
c.194C>A
NM_001044369.3
p.E88K
c.262G>A
NM_001044369.3
p.R355H
c.1064G>A
NM_001044369.3
p.R393W
c.1177C>T
NM_001044369.3
p.C20*
c.60C>A
NM_001044369.3
p.S51A
c.151T>G
NM_001044369.3
p.G73G
c.219C>T
NM_001044369.3
p.A76V
c.227C>T
NM_001044369.3
p.A86A
c.258G>C
NM_001044369.3
p.E88*
c.262G>T
NM_001044369.3
p.R111R
c.331C>A
NM_001044369.3
p.P173P
c.519G>A