Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_001080830.5
p.C477Y
c.1430G>A
NM_001080830.5
p.L235I
c.703C>A
NM_001080830.5
p.V341I
c.1021G>A
NM_001080830.5
p.E50K
c.148G>A
NM_001080830.5
p.G460V
c.1379G>T
NM_001080830.5
p.C472insFs
c.1415_1416insCC
NM_001080830.5
p.G480S
c.1438G>A
NM_001080830.5
p.T53K
c.158C>A
NM_001080830.5
p.R94C
c.280C>T
NM_001080830.5
p.T157M
c.470C>T
NM_001080830.5
p.S340T
c.1018T>A
NM_001080830.5
p.A391A
c.1173C>T