Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_001080404.3
p.R415Q
c.1244G>A
NM_001080404.3
p.R153S
c.459G>T
NM_001080404.3
p.R153S
c.459G>C
NM_001080404.3
p.S166F
c.497C>T
NM_001080404.3
p.R187G
c.559C>G
NM_001080404.3
p.R187H
c.560G>A
NM_001080404.3
p.T216delFs
c.648delT
NM_001080404.3
p.S238fs
c.712_713fs
NM_001080404.3
p.R254C
c.760C>T
NM_001080404.3
p.K258Q
c.772A>C
NM_001080404.3
p.K262I
c.785A>T
NM_001080404.3
p.T286K
c.857C>A