Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_001031692.3
p.K119E
c.355A>G
NM_001031692.3
p.G187A
c.560G>C
NM_001031692.3
p.E214del1
c.640_642delGAA
NM_001031692.3
p.L72delFs
c.214delT
NM_001031692.3
p.E422delFs
c.1265delA
NM_001031692.3
p.V435I
c.1303G>A
NM_001031692.3
p.I6T
c.17T>C
NM_001031692.3
p.A15V
c.44C>T
NM_001031692.3
p.R29*
c.85C>T
NM_001031692.3
p.H32L
c.95A>T
NM_001031692.3
p.R34W
c.100C>T
NM_001031692.3
p.C67delFs
c.201delT