Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_000689.5
p.S75S
c.225C>T
NM_000689.5
p.N121S
c.362A>G
NM_000689.5
p.I177F
c.529A>T
NM_000689.5
p.N262S
c.785A>G
NM_000689.5
p.M109K
c.326T>A
NM_000689.5
p.P172P
c.516G>T
NM_000689.5
p.V295L
c.883G>T
NM_000689.5
p.V295L
c.883G>C
NM_000689.5
p.G333E
c.998G>A
NM_000689.5
p.P335S
c.1003C>T
NM_000689.5
p.A446T
c.1336G>A
NM_000689.5
p.F466Y
c.1397T>A