Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_001080508.3
p.E29K
c.85G>A
NM_001080508.3
p.R151L
c.452G>T
NM_001080508.3
p.K163E
c.487A>G
NM_001080508.3
p.M172I
c.516G>T
NM_001080508.3
p.M172I
c.516G>C
NM_001080508.3
p.M172I
c.516G>A
NM_001080508.3
p.P193P
c.579A>T
NM_001080508.3
p.D280N
c.838G>A
NM_001080508.3
p.T305A
c.913A>G
NM_001080508.3
p.A325V
c.974C>T
NM_001080508.3
p.W348L
c.1043G>T
NM_001080508.3
p.H524Y
c.1570C>T