Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_003595.5
p.H266Q
c.798C>G
NM_003595.5
p.H266Q
c.798C>A
NM_003595.5
p.R153H
c.458G>A
NM_003595.5
p.R247C
c.739C>T
NM_003595.5
p.M1I
c.3G>T
NM_003595.5
p.R2G
c.4C>G
NM_003595.5
p.G43G
c.129G>T
NM_003595.5
p.A44fs
c.130_131fs
NM_003595.5
p.R46W
c.136C>T
NM_003595.5
p.E61V
c.182A>T
NM_003595.5
p.V73M
c.217G>A
NM_003595.5
p.G75V
c.224G>T