Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_001304533.3
p.V140I
c.418G>A
NM_001304533.3
p.G6E
c.17G>A
NM_001304533.3
p.S9T
c.25T>A
NM_001304533.3
p.L18_V19Splc
c.54+134922G>C
NM_001304533.3
p.V19A
c.56T>C
NM_001304533.3
p.A35V
c.104C>T
NM_001304533.3
p.L42insFs
c.124_125ins5
NM_001304533.3
p.L42fs
c.124_125fs
NM_001304533.3
p.G50V
c.149G>T
NM_001304533.3
p.Y61C
c.182A>G
NM_001304533.3
p.W72C
c.216G>C
NM_001304533.3
p.W72C
c.216G>T