Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_013260.8
p.G290S
c.868G>A
NM_013260.8
p.P20L
c.59C>T
NM_013260.8
p.G24G
c.72C>T
NM_013260.8
p.E62*
c.184G>T
NM_013260.8
p.N90D
c.268A>G
NM_013260.8
p.P120L
c.359C>T
NM_013260.8
p.Q132_D133Splc
c.396+1G>A
NM_001301839.2
p.Y123C
c.368A>G
NM_013260.8
p.N180S
c.539A>G
NM_013260.8
p.Y196C
c.587A>G
NM_013260.8
p.M208V
c.622A>G
NM_013260.8
p.E212G
c.635A>G