Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_021115.5
p.M430I
c.1290G>T
NM_021115.5
p.M430I
c.1290G>A
NM_021115.5
p.M430I
c.1290G>C
NM_021115.5
p.R188Q
c.563G>A
NM_021115.5
p.E526K
c.1576G>A
NM_021115.5
p.E60Q
c.178G>C
NM_021115.5
p.A192V
c.575C>T
NM_021115.5
p.E750K
c.2248G>A
NM_021115.5
p.G776S
c.2326G>A
NM_021115.5
p.F17L
c.49T>C
NM_021115.5
p.F17L
c.51C>A
NM_021115.5
p.F17L
c.51C>G