Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_001073.3
p.I442V
c.1324A>G
NM_001073.3
p.H481R
c.1442A>G
NM_001073.3
p.R447I
c.1340G>T
NM_001073.3
p.D458H
c.1372G>C
NM_001073.3
p.C156R
c.466T>C
NM_001073.3
p.S70P
c.208T>C
NM_001073.3
p.V153L
c.457G>C
NM_001073.3
p.L201L
c.603A>G
NM_001073.3
p.W223*
c.668G>A
NM_001073.3
p.W223*
c.669G>A
NM_001073.3
p.F397C
c.1190T>G
NM_001073.3
p.F397L
c.1191T>G