Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_013434.5
p.R39H
c.116G>A
NM_013434.5
p.A170S
c.508G>T
NM_013434.5
p.D179Y
c.535G>T
NM_013434.5
p.M1ins2
c.2_3ins6
NM_013434.5
p.G13D
c.38G>A
NM_013434.5
p.G20R
c.58G>A
NM_013434.5
p.G20R
c.58G>C
NM_013434.5
p.G20E
c.59G>A
NM_013434.5
p.K27M
c.80A>T
NM_013434.5
p.Q40H
c.120G>T
NM_013434.5
p.A41insFs
c.121_122insAC
NM_013434.5
p.A41insFs
c.121_122ins4