Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_014519.6
p.P3L
c.8C>T
NM_014519.6
p.G9G
c.27G>A
NM_014519.6
p.G53E
c.158G>A
NM_014519.6
p.R79H
c.236G>A
NM_014519.6
p.L157I
c.469T>A
NM_014519.6
p.H172L
c.515A>T
NM_014519.6
p.Q176H
c.528G>T
NM_014519.6
p.Q176H
c.528G>C
NM_014519.6
p.K200M
c.599A>T
NM_014519.6
p.P204L
c.611C>T
NM_014519.6
p.P235S
c.703C>T
NM_014519.6
p.R369K
c.1106G>A