Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001252657.2
p.S193N
c.578G>A
NM_001252657.2
p.A260T
c.778G>A
NM_001252657.2
p.E27D
c.81G>T
NM_001252657.2
p.E27D
c.81G>C
NM_001252657.2
p.E53K
c.157G>A
NM_001252657.2
p.G61V
c.182G>T
NM_001252657.2
p.Q84*
c.250C>T
NM_001252657.2
p.D187N
c.559G>A
NM_001252657.2
p.P199T
c.595C>A
NM_001252657.2
p.G205C
c.613G>T
NM_001252657.2
p.G209E
c.626G>A
NM_001252657.2
p.S214L
c.641C>T